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American journal of medical genetics, Part C. Seminars in medical genetics

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中文名称：美国医学遗传学杂志,C。在医学遗传学研讨会

ISSN：1552-4868
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发文量：419

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1.The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

机译：成年人的Sotos综合征表型：对44个个体的审查
- 作者：Foster Alison;Zachariou Anna;Loveday Chey;Ashraf Tazeen;Blair Edward;Clayton‐Smith Jill;Dorkins Huw;Fryer Alan;Gener Blanca;Goudie David;Henderson Alex;Irving Melita;Joss Shelagh;Keeley Vaughan;Lahiri Nayana;Lynch Sally Ann;Mansour Sahar;McCann Emma;Morton Jenny;Motton Nicole;Murray Alexandra;Riches Katie;Shears Deborah;Stark Zornitza;Thompson Elizabeth;Vogt Julie;Wright Michael;Cole Trevor;Tatton‐Brown Katrina
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第4期
- adult phenotype;
- overgrowth‐intellectual disability syndrome;
- Sotos syndrome;
2.Orthopaedic Management of the Ehlers-Danlos Syndromes

机译：Ehlers-Danlos综合征的矫形管理
- 作者：Ericson William B. Jr.;Wolman Roger
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2017年第1期
- orthopedic surgery;
- Ehlers-Danlos syndrome;
- joint stabilization;
- nerve decompression;
- musculoskeletal treatment;
3.A clinical update on tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)

机译：结核硬化复杂相关神经精神疾病（TAND）的临床更新
- 作者：de Vries Petrus J.;Wilde Lucy;de Vries Magdalena C.;Moavero Romina;Pearson Deborah A.;Curatolo Paolo
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2018年第3期
- ADHD;
- anxiety;
- autism spectrum disorder;
- behavior;
- depression;
- mental health;
- neuropsychological deficits;
- scholastic difficulties;
- TANDTSC;
4.Growth and growth hormone in Turner syndrome: Looking back, looking ahead

机译：转身综合征的生长和生长激素：回头看，展望未来
- 作者：Los Evan;Rosenfeld Ron G.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第1期
- growth;
- growth hormone;
- Turner syndrome;
5.Classification of arthrogryposis

机译：Arttro血杂化分类
- 作者：Hall Judith G.;Kimber Eva;Dieterich Klaus
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第3期
- arthrogryposis;
- classification;
- clinical approach;
- molecular approach;
- tissue disorders;
6.The etiology of VACTERL association: Current knowledge and hypotheses

机译：细胞协会的病因：目前的知识和假设
- 作者：Solomon Benjamin D.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2018年第4期
- VACTERL;
- VACTERL association;
- VATER;
- VATER association;
7.X‐linked duplication copy number variation in a familial overgrowth condition

机译：家庭过度生长条件下的X链接复制拷贝数变型
- 作者：Ha Thoa K.;Mardy Anne H.;Beleford Daniah;Spanier Andrew;Wayman Brette V.;Penon‐Portmann Monica;Wiita Arun P.;Shieh Joseph T.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第4期
- copy number variation;
- FIRRE;
- IGSF1;
- overgrowth;
- X‐linked;
8.From cause to care: Can a triple approach to better population data improve the global outlook of congenital heart disease?

机译：从原因照顾：可以提高人口数据的三重方法改善先天性心脏病的全球展望吗？
- 作者：Botto Lorenzo D.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2020年第1期
- congenital heart disease;
- genetics;
- prevention;
- public health;
- surveillance;
9.Gonadal dysfunction and beyond: Clinical challenges in children, adolescents, and adults with 47,XXY Klinefelter syndrome

机译：Gonadal功能障碍及更大：儿童，青少年和成人的临床挑战47，XXY KlinePelter综合征
- 作者：Zitzmann Michael;Michael Zitzmann;Rohayem Julia;Julia Rohayem
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2020年第2期
10.Behavior in CHARGE syndrome

机译：充电综合征的行为
- 作者：Hartshorne Timothy S.;Stratton Kasee K.;Brown David;Madhavan-Brown Shanti;Schmittel Megan C.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2017年第4期
- anxiety;
- behavior;
- CHARGE syndrome;
- pain;
- self-regulation;
- sensory impairment;
11.The International Consortium on the Ehlers-Danlos Syndromes

机译：ehlers-danlos综合征的国际财团
- 作者：Bloom Lara;Byers Peter;Francomano Clair;Tinkle Brad;Malfait Fransiska
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2017年第1期
12.Reproductive endocrine phenotypes relating to CHD7 mutations in humans

机译：与人类的CHD7突变有关的生殖内分泌表型
- 作者：Balasubramanian Ravikumar;Crowley William F. Jr.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2017年第4期
- CHARGE syndrome;
- CHD7;
- GnRH;
- Isolated GnRH deficiency;
- idiopathic hypogonadotropic hypogonadism;
- Kallmann syndrome;
13.Confirmatory testing illustrates additional risks for structural sex chromosome abnormalities in fetuses with a non‐invasive prenatal screen positive for monosomy X

机译：确认检测说明了胎儿中结构性染色体异常的额外风险与单体x的非侵入性产前筛选
- 作者：Sund Kristen L.;Kristen L. Sund;Khattar Divya;Divya Khattar;Boomer Theresa;Theresa Boomer;Caldwell Samantha;Dyer Lisa;Hopkin Robert J.;Smolarek Teresa A.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2020年第2期
- discordant results;
- monosomy X;
- NIPS;
- NIPT;
- non-invasive prenatal screening;
- sex chromosome abnormality;
14.Hypermobile Ehlers-Danlos Syndrome (a.k.a. Ehlers-Danlos Syndrome Type III and Ehlers-Danlos Syndrome Hypermobility Type): Clinical Description and Natural History

机译：高致密ehlers-danlos综合征（A.K.A.Ehlers-Danlos综合征III和Ehlers-Danlos综合征高产类型）：临床描述和自然历史
- 作者：Tinkle Brad;Castori Marco;Berglund Britta;Cohen Helen;Grahame Rodney;Kazkaz Hanadi;Levy Howard
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2017年第1期
15.Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong

机译：中文骚扰遗传景观：香港三十年的经验
- 作者：Yu Kris P. T.;Luk Ho-Ming;Leung Gordon K. C.;Mak Christopher C. Y.;Cheng Shirley S. W.;Hau Edgar W. L.;Chan David K. H.;Lam Stephen T. S.;Tong Tony M. F.;Chung Brian H. Y.;Lo Ivan F. M.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第2期
16.The NuRD complex and macrocephaly associated neurodevelopmental disorders

机译：NERD复合物和大型畸形相关的神经发育障碍
- 作者：Pierson Tyler Mark;Otero Maria G.;Grand Katheryn;Choi Andrew;Graham John M.;Young Juan I.;Mackay Joel P.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第4期
- CHD3;
- CHD4;
- GATAD2B;
- macrocephaly;
- NuRD complex;
17.Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency

机译：由于5-α还原酶2缺乏5-α还原蛋白，XY DSD中的意外的道德困境。
- 作者：Byers Heather M.;Mohnach Lauren H.;Fechner Patricia Y.;Chen Ming;Thomas Inas H.;Ramsdell Linda A.;Shnorhavorian Margarett;McCauley Elizabeth A.;Oelschlager Anne-Marie E. Amies;Park John M.;Sandberg David E.;Adam Margaret P.;Keegan Catherine E.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2017年第2期
- 5-alpha reductase deficiency;
- 5aR2D;
- DSD;
- ethics;
- gender;
- sex assignment;
- SRD5A2;
18.Holoprosencephaly from conception to adulthood

机译：从概念到成年期的全神经理
- 作者：Weiss Karin;Kruszka Paul S.;Levey Eric;Muenke Max
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2018年第2期
- holoprosencephaly adult child management;
19.Fetal cervical hyperextension in arthrogryposis

机译：胎儿血管血清术中的胎儿颈椎过度伸展
- 作者：Hall Judith G.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第3期
- Amyoplasia;
- arthrogryposis;
- cervical hyperextension;
- fetal cervical hyperextension;
- monozygotic twins;
- uterine anomalies;
20.Recent advances in understanding inheritance of holoprosencephaly

机译：理解全华畸形的最新进展
- 作者：Dubourg Christele;Kim Artem;Watrin Erwan;de Tayrac Marie;Odent Sylvie;David Veronique;Dupe Valerie
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2018年第2期
- complex disorder;
- holoprosencephaly;
- oligogenic inheritance;
- Sonic hedgehog;
21.Testicular function in boys with 47,XYYand relationship to phenotype

机译：睾丸功能在47，Xyyand与表型的关系中
- 作者：Davis Shanlee M.;Bloy Luke;Roberts Timothy P. L.;Kowal Karen;Alston Amanda;Tahsin Aysha;Truxon Alyssa;Ross Judith L.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2020年第2期
- infertility;
- inhibin b;
- Sertoli cell function;
- testicular insufficiency;
- XYY syndrome;
22.Gynecological challenges in the diagnosis and care of patients with DSD: The role of the obstetrician gynecologist in the multidisciplinary approach to the patient

机译：DSD患者诊断和照顾的妇科挑战：产科医生妇科医生在患者的多学科方法中的作用
- 作者：Gomez-Lobo Veronica;Oelschlager Anne-Marie Amies
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2017年第2期
- disorders of sex development;
- obstetrician gynecologist;
23.The rise of the genetic counseling profession in China

机译：中国遗传咨询专业的兴起
- 作者：Sun Liya;Liang Bo;Zhu Liping;Shen Yiping;He Lin
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第2期
24.A hypothesis: Could telomere length and/or epigenetic alterations contribute to infertility in females with Turner syndrome?

机译：一个假设：可以端粒长度和/或表观遗传改变有助于患有特纳综合征的女性的不孕症吗？
- 作者：Jackson-Cook Colleen
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第1期
- epigenetics;
- infertility;
- monosomy X;
- premature ovarian insufficiency;
- telomere;
- Turner syndrome;
25.Genetic counseling: Growth of the profession and the professional

机译：遗传咨询：专业的增长和专业
- 作者：Baty Bonnie J.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2018年第1期
- career development;
- genetic counseling;
- history of genetic counseling;
- professional development;
- professionalization;
26.Neuropsychological functions, sleep, and mental health in adults with Klinefelter syndrome

机译：klinefelter综合征的成年人的神经心理功能，睡眠和心理健康
- 作者：Fjermestad Krister W.;Krister W. Fjermestad;Huster Rene;Rene Huster;Thunberg Christina;Christina Thunberg;Stokke Simen;Gravholt Claus H.;Solbakk Anne-Kristin
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2020年第2期
- 47;
- XXY;
- executive functions;
- Klinefelter syndrome;
- mental health;
- sleep;
27.Cover Image, Volume 181, Number 4, December 2019

机译：封面图像，第181卷，2019年12月4日
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第4期
28.Genetic counseling among minority populations in the era of precision medicine

机译：精密医学时代少数群体群体的遗传咨询
- 作者：Halbert Chanita H.;Harrison Barbara W.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2018年第1期
- disparities;
- genetic counseling;
- minority populations;
- precision medicine;
29.MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature

机译：MAP3K1相关的Gonadal脱衣：六个新案例和文学审查
- 作者：Granados Andrea;Alaniz Veronica I.;Mohnach Lauren;Barseghyan Hayk;Vilain Eric;Ostrer Harry;Quint Elisabeth H.;Chen Ming;Keegan Catherine E.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2017年第2期
- 46;
- XY DSD;
- disorders of sex development;
- gonadal dysgenesis;
- MAP3K1;
30.Treatment and outcomes of arthrogryposis in the upper extremity

机译：上肢中腺血症术治疗和结果
- 作者：Oishi Scott;Agranovich Olga;Zlotolow Dan;Wall Lindley;Stutz Chris;Pajardi Giorgio;Novelli Chiara;Ghani Hisham Abdel;Jester Andrea;Vuillermin Carley;James Michelle;Manske Mary C.;Beckwith Terri
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第3期
- AMC;
- arthrogryposis;
- pediatrics;
- upper extremity;
31.Genetic counselors as social and behavioral scientists in the era of precision medicine

机译：遗传辅导员作为精密医学时代的社会和行为科学家
- 作者：Biesecker Barbara B.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2018年第1期
32.Research platform for children with arthrogryposis multiplex congenita: Findings from the pilot registry

机译：Arthroic血清患者的儿童研究平台多重Congenita：试点登记处的调查结果
- 作者：Dahan-Oliel Noemi;van Bosse Harold J. P.;Bedard Tanya;Darsaklis Vasiliki B.;Hall Judith G.;Hamdy Reggie C.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第3期
- arthrogryposis multiplex congenita;
- multiple congenital contractures;
- pediatrics;
- rare disease;
- registry;
33.Genetic studies on systemic lupus erythematosus in East Asia point to population differences in disease susceptibility

机译：东亚全身狼疮红斑狼疮的遗传研究指向疾病易感性的人口差异
- 作者：Wang Yong-Fei;Lau Yu Lung;Yang Wanling
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第2期
- association studies;
- East Asian;
- genetic susceptibility;
- population differences;
- systemic lupus erythematosus;
34.The state of Turner syndrome science: Are we on the threshold of discovery?

机译：特纳综合症科学的状态：我们是在发现的门槛吗？
- 作者：Paul Kruszka;Michael Silberbach
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第1期
35.Copy number variation burden does not predict severity of neurodevelopmental phenotype in children with a sex chromosome trisomy

机译：拷贝数变异负担并未预测性染色体三重术儿童的神经发育表型的严重程度
- 作者：Mountford Hayley S.;Hayley S. Mountford;Bishop Dorothy V. M.;Dorothy V. M. Bishop;Thompson Paul A.;Paul A. Thompson;Simpson Nuala H.;Newbury Dianne F.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2020年第2期
- copy number variants;
- double hit;
- language;
- loss-of-function intolerance;
- neurodevelopmental disorder;
- sex chromosome trisomy;
36.Holoprosencephaly: A clinical genomics perspective

机译：全华术：临床基因组学视角
- 作者：Solomon Benjamin D.;Retterer Kyle;Juusola Jane
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2018年第2期
- holoprosencephaly;
- HPE;
- exome;
37.PHACE syndrome: Infantile hemangiomas associated with multiple congenital anomalies: Clues to the cause

机译：phace综合征：与多个先天性异常相关的婴儿血管瘤：导致的线索
- 作者：Siegel Dawn H.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2018年第4期
- infantile hemangioma;
- LUMBAR syndrome;
- PELVIS syndrome;
- PHACE syndrome;
- SACRAL syndrome;
- vascular anomaly syndromes;
38.Development of the human heart

机译：发展人类的心
- 作者：Buijtendijk Marieke F. J.;Barnett Phil;van den Hoff Maurice J. B.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2020年第1期
- cardiac development;
- valve development;
- septation;
- epicardial development;
- cardiac growth;
39.Cardiometabolic health in Turner syndrome

机译：特纳综合征中的心肌异常健康
- 作者：Davis Shanlee M.;Geffner Mitchell E.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第1期
- diabetes;
- epigenetics;
- metabolic syndrome;
- sex chromosome aneuploidy;
- Turner syndrome;
40.Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations

机译：先天性心脏缺陷与非洲倍性综合征相关：熟悉协会的新见解
- 作者：Lin Angela E.;Santoro Stephanie;High Frances A.;Goldenberg Paula;Gutmark-Little Iris
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2020年第1期
- Down syndrome;
- Klinefelter syndrome;
- trisomy 13 syndrome;
- trisomy 18 syndrome;
- trisomy 22 syndrome;
- Turner syndrome;
41.Gene ontology analysis of arthrogryposis (multiple congenital contractures)

机译：Arthroic血清病理学分析（多个先天性挛缩）
- 作者：Kiefer Jeff;Hall Judith G.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第3期
- arthrogryposis;
- developmental pathways;
- enrichment analysis;
- gene ontology;
- multiple congenital contractures;
42.Perspectives on gait and motion analysis in the management of youth with arthrogryposis multiplex congenita

机译：对青少年青年管理中的步态和运动分析的观点
- 作者：Rodriguez Luisa M.;Bickley Christina;Russo Stephanie;Barnes Douglas;Gagnon Marianne;Hamdy Reggie;Veilleux Louis-Nicolas
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第3期
43.Interdisciplinary care in disorders/differences of sex development (DSD): The psychosocial component of the DSDTranslational research network

机译：跨学科护理在性行为的障碍/差异（DSD）：DSDTranslational研究网络的心理社会组成部分
- 作者：Sandberg David E.;Gardner Melissa;Callens Nina;Mazur Tom
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2017年第2期
- case management;
- disorders of sex development;
- intersex;
- psychosocial assessment;
- psychosocial factors;
- registry;
- standardization;
44.Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly

机译：非体重素，非合成瘤性质的肺部表现
- 作者：Martinez Ariel F.;Kruszka Paul S.;Muenke Maximilian
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2018年第2期
45.An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome

机译：关于oculocentbrocuternicate（Delleman-Oorthuys）综合征的更新
- 作者：Moog Ute;Dobyns William B.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2018年第4期
- cystic microphthalmia;
- Delleman-Oorthuys syndrome;
- giant tectum absent vermis;
- OCCS;
- oculocerebrocutaneous syndrome;
- polymicrogyria;
46.Muscle and joint function in children living with arthrogryposis multiplex congenita: A scoping review

机译：肌肉和关节功能在患有Arttrogryposis Multiplex Congenita的儿童中的肌肉和关节功能：一个范围审查
- 作者：Gagnon Marianne;Caporuscio Kevin;Veilleux Louis-Nicolas;Hamdy Reggie;Dahan-Oliel Noemi
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第3期
- arthrogryposis multiplex congenita;
- joint;
- management;
- muscle;
- pediatric;
47.The different facets of 'culture' in genetic counseling: A situated analysis of genetic counseling in Hong Kong

机译：“文化”的遗传咨询中的不同方面：香港遗传咨询的一个分析
- 作者：Zayts Olga;Shipman Hannah;Fung Jasmine L. -F.;Liu Anthony P. -Y.;Kwok Sit-Yee;Tsai Anne C. -H.;Yung Tak-Cheung;Chung Brian H. -Y.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第2期
- cultural awareness;
- culture;
- discourse analysis;
- empirical data;
- genetic counseling;
48.Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry

机译：Cantú综合症：74名患者在国际Cantú综合征注册表中的调查结果
- 作者：Grange Dorothy K.;Roessler Helen I.;McClenaghan Conor;Duran Karen;Shields Kathleen;Remedi Maria S.;Knoers Nine V. A. M.;Lee Jin‐Moo;Kirk Edwin P.;Scurr Ingrid;Smithson Sarah F.;Singh Gautam K.;Haelst Mieke M.;Nichols Colin G.;Haaften Gijs
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第4期
- ABCC9;
- Cantú;
- cardiomegaly;
- hypertrichosis;
- PDA;
- polyhydramnios;
49.How do genes that escape from X‐chromosome inactivation contribute to Turner syndrome?

机译：如何逃离X-染色体的灭活基因有助于变形综合症？
- 作者：Samantha B. Peeters
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第1期
50.Ethical considerations for cardiac surgical interventions in children with trisomy 13 and trisomy 18

机译：三元13和三重细节儿童心脏手术干预的道德考虑
- 作者：Neubauer Kathryn;Boss Renee D.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2020年第1期
51.Pulmonary manifestations in tuberous sclerosis complex

机译：肿块硬化复合体的肺部表现
- 作者：Gupta Nishant;Henske Elizabeth P.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2018年第3期
- lymphangioleiomyomatosis;
- mTOR;
- sirolimus;
- TSC;
- VEGF-D;
52.The impact of somatic mosaicism on bicuspid aortic valve and aortic dissection in Turner Syndrome

机译：体细胞镶嵌对旋转综合征的双囊主动脉瓣膜和主动脉夹层的影响
- 作者：Prakash Siddharth K.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第1期
- aneuploidy;
- somatic mosaicism;
- turner syndrome;
53.Genetics, genomics, and genotype-phenotype correlations of TSC: Insights for clinical practice

机译：TSC的遗传学，基因组学和基因型表型相关性：临床实践的见解
- 作者：Peron Angela;Au Kit Sing;Northrup Hope
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2018年第3期
- genetic counseling;
- genetics of TSC;
- genotype-phenotype correlation;
- tuberous sclerosis complex (TSC);
- TSC1;
- TSC2;
54.Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention

机译：儿童早期神经发育和医疗型材，性别染色体三术：背景为前瞻性非凡婴儿研究，以确定早期危险因素和干预目标
- 作者：Tartaglia Nicole;Nicole Tartaglia;Howell Susan;Susan Howell;Davis Shanlee;Shanlee Davis;Kowal Karen;Karen Kowal;Tanda Tanea;Brown Mariah;Boada Cristina;Alston Amanda;Crawford Leah;Thompson Talia;van Rijn Sophie;Wilson Rebecca;Janusz Jennifer;Ross Judith
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2020年第2期
- XXY;
- XYY;
- Trisomy X;
- neurodevelopment;
- testosterone;
55.Research priorities of people living with Turner syndrome

机译：用特纳综合征生活的人的研究优先事项
- 作者：David E. Sberg
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第1期
56.Growth and growth hormone in Turner syndrome: Looking back, looking ahead

机译：转身综合征的生长和生长激素：回头看，展望未来
- 作者：Evan Los
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第1期
57.Microstructural white matter tract alteration in Prader-Willi syndrome: A diffusion tensor imaging study

机译：PRADER-WILLI综合征的微观结构白质子改变：扩散张量成像研究
- 作者：Rice Lauren J.;Lagopoulos Jim;Brammer Michael;Einfeld Stewart L.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2017年第3期
- diffusion tensor imaging;
- fractional anisotropy;
- Prade-Willi syndrome;
- PWS;
- white matter;
58.Left-right patterning in congenital heart disease beyond heterotaxy

机译：在异常的先天性心脏病中左右术语
- 作者：Gabriel George C.;Lo Cecilia W.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2020年第1期
- cilia;
- congenital heart disease;
- heterotaxy;
- left-right patterning;
59.The genetic basis of Turner syndrome aortopathy

机译：变型综合征主动作用的遗传基础
- 作者：Corbitt Holly;Gutierrez Jacob;Silberbach Michael;Maslen Cheryl L.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第1期
- aortic disease;
- bicuspid aortic valve;
- congenital cardiovascular disease;
- polygenic trait;
60.CHARGEd with neural crest defects

机译：充电了神经嵴缺陷
- 作者：Pauli Silke;Bajpai Ruchi;Borchers Annette
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2017年第4期
- CHARGE syndrome;
- CHD7;
- chromatin remodeling;
- neural crest;
- neural crest development;
61.Rehabilitation across the lifespan for individuals with arthrogryposis

机译：康复在患有Arthro血清症的个体的寿命
- 作者：Wagner Lisa V;Cherry J. Suzanne;Sawatzky Bonita J.;Fafara Alicja;Elfassy Caroline;Eriksson Marie;Montpetit Kathleen;Bucci Tricia;Donohoe Maureen
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第3期
- activities of daily living;
- arthrogryposis multiplex congenita;
- orthotics;
- range of motion;
- rehabilitation;
62.Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong

机译：香港产前和产后环境中染色体微阵列的体验
- 作者：Cheng Shirley S. W.;Chan Kelvin Y. K.;Leung Kelphen K. P.;Au Patrick K. C.;Tam Wai-Keung;Li Samuel K. M.;Luk Ho-Ming;Kan Anita S. Y.;Chung Brian H. Y.;Lo Ivan F. M.;Tang Mary H. Y.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第2期
- autism;
- Chinese;
- chromosomal microarray;
- developmental delay;
- prenatal test;
63.The past, present and future of service delivery in genetic counseling: Keeping up in the era of precision medicine

机译：遗传咨询中的过去，现在和未来的服务交付：在精密药物时代延伸
- 作者：Stoll Katie;Kubendran Shobana;Cohen Stephanie A.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2018年第1期
- genetic counseling;
- precision medicine;
- service delivery models;
- workforce;
64.The epidemiology of sex chromosome abnormalities

机译：性染色体异常的流行病学
- 作者：Berglund Agnethe;Agnethe Berglund;Stochholm Kirstine;Kirstine Stochholm;Gravholt Claus Hojbjerg;Claus H?jbjerg Gravholt
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2020年第2期
- 47;
- XXX syndrome;
- 47;
- XYY syndrome;
- epidemiology;
- Klinefelter syndrome;
- Turner syndrome;
65.Functions of TGIF homeodomain proteins and their roles in normal brain development and holoprosencephaly

机译：TGIF Homodomain蛋白质的功能及其在正常脑发育和全华畸形中的作用
- 作者：Wotton David;Taniguchi Kenichiro
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2018年第2期
- development;
- forebrain;
- holoprosencephaly;
- mouse;
- Nodal;
- SHH;
- TGIF;
- TGIF1;
- TGIF2;
66.Oral and Mandibular Manifestations in the Ehlers- Danlos Syndromes

机译：ehlers- danlos综合征中的口腔和下颌表现
- 作者：Mitakides John;Tinkle Brad T.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2017年第1期
- Ehlers-Danlos syndrome;
- temporomandibular dysfunction;
- temporomandibular joint;
- oral manifestations;
- hypermobility;
67.Modeling the complex etiology of holoprosencephaly in mice

机译：模拟小鼠全神经理复杂病因
- 作者：Hong Mingi;Krauss Robert S.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2018年第2期
- gene-environment interaction;
- hedgehog signaling;
- holoprosencephaly;
- modifier genes;
- mouse;
- mutation;
- nodal signaling;
- teratogen;
68.Endocrinological issues and hormonal manipulation in children and men with Klinefelter syndrome.

机译：KlineFelter综合征儿童与男性的内分泌问题和荷尔蒙治疗。
- 作者：Matthew S Wosnitzer;Darius A Paduch
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2013年第1期
69.Is it all the X: familial learning dysfunction and the impact of behavioral aspects of the phenotypic presentation of XXY?

机译：是所有x：家族性学习功能障碍和XXY表型呈现的行为方面的影响吗？
- 作者：Carole A Samango-Sprouse;Emily Stapleton;Teresa Sadeghin;Andrea L Gropman
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2013年第1期
70.Sexual differentiation of the brain in man and animals: of relevance to Klinefelter syndrome?

机译：人类和动物的大脑的性分化：与KlineFelter综合征有关吗？
- 作者：Margaret M McCarthy
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2013年第1期
71.47,XXY Klinefelter syndrome: clinical characteristics and age-specific recommendations for medical management.

机译：47，XXY KlineFelter综合征：医疗管理的临床特征和年龄特异性建议。
- 作者：Lise Aksglaede;Katarina Link;Aleksander Giwercman;Niels J?rgensen;Niels E Skakkebaek;Anders Juul
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2013年第1期
72.Introduction: past, present, and future care of individuals with XXY.

机译：简介：用XXY的个人的过去，现在和未来的关怀。
- 作者：Carole A Samango-Sprouse;Andrea L Gropman
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2013年第1期
73.Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variations.

机译：X和Y染色体变化的神经认知方差和神经凋亡。
- 作者：Andrea Gropman;Carole A Samango-Sprouse
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2013年第1期
74.Musculoskeletal anomalies in a large cohort of boys with 49, XXXXY.

机译：肌肉骨骼异常在一个大队的男孩队，有49个，xxxy。
- 作者：Courtney Sprouse;Laura Tosi;Emily Stapleton;Andrea L Gropman;Francie L Mitchell;Rick Peret;Teresa Sadeghin;Kathryn Haskell;Carole A Samango-Sprouse
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2013年第1期
75.Immunodeficiency in patients with 49,XXXXY chromosomal variation.

机译：49例患者免疫缺陷，XXXXY染色体变异。
- 作者：Michael D Keller;Teresa Sadeghin;Carole Samango-Sprouse;Jordan S Orange
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2013年第1期
76.Prenatal diagnosis and 47,XXY.

机译：产前诊断和47，XXY。
- 作者：Joe Leigh Simpson;Carole Samango-Sprouse
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2013年第1期
77.Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment

机译：Noonan综合征的先天性心脏缺陷：诊断，管理和治疗
- 作者：Linglart Lea;Gelb Bruce D.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2020年第1期
- congenital heart disease;
- Noonan syndrome;
- RASopathy;
78.Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination

机译：AICARDI综合征，一个未解决的谜团：审查诊断特征，以前的尝试和遗传检查的未来机会
- 作者：Wong Bibiana K. Y.;Sutton V. Reid
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2018年第4期
- Aicardi syndrome;
- chorioretinal lacunae;
- corpus callosum agenesis;
- infantile spams;
- seizures;
79.Psychiatric and Psychological Aspects in the Ehlers-Danlos Syndromes

机译：ehlers-danlos综合征的精神病和心理方面
- 作者：Bulbena Antonio;Baeza-Velasco Carolina;Bulbena-Cabre Andrea;Pailhez Guillem;Critchley Hugo;Chopra Pradeep;Mallorqui-Bague Nuria;Frank Charissa;Porges Stephen
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2017年第1期
- joint hypermobility;
- anxiety;
- psychopathology;
- neuroconnective phenotype;
- hypermobile Ehlers-Danlos syndrome;
80.PRC2‐complex related dysfunction in overgrowth syndromes: A review of EZH2 EZH2 , EED EED , and SUZ12 SUZ12 and their syndromic phenotypes

机译：过度生长综合征中的PRC2复杂相关功能障碍：审查EZH2 EZH2，EED EED和SUZ12 SUZ12及其综合征表型
- 作者：Cyrus Sharri;Burkardt Deepika;Weaver David D.;Gibson William T.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第4期
- Cohen–Gibson syndrome;
- overgrowth;
- polycomb repressive complex 2;
- SUZ12‐related overgrowth;
- Weaver syndrome;
81.Sex chromosome aneuploidy alters the relationship between neuroanatomy and cognition

机译：性染色体非血磅改变了神经肿瘤和认知之间的关系
- 作者：Warling Allysa;Allysa Warling;Liu Siyuan;Siyuan Liu;Wilson Kathleen;Kathleen Wilson;Whitman Ethan;Lalonde Francois M.;Clasen Liv S.;Blumenthal Jonathan D.;Raznahan Armin
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2020年第2期
- aneuploidy;
- cognition;
- neuroanatomy;
- structural magnetic resonance imaging;
82.Pain among children and adults living with arthrogryposis multiplex congenita: A scoping review

机译：儿童和成人疼痛与Arttrogryposis Multiplex Congenita一起生活：范围审查
- 作者：Cirillo Alexa;Collins Jessica;Sawatzky Bonita;Hamdy Reggie;Dahan-Oliel Noemi
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第3期
- adult;
- arthrogryposis multiplex congenita;
- child;
- pain;
- participation;
83.The deep biology of cognition: Moving toward a comprehensive neurodevelopmental model of Turner syndrome

机译：认知深层生物学：朝着革新综合征综合神经发育模式
- 作者：Knickmeyer Rebecca C.;Hooper Stephen R.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第1期
- cognition;
- neuroimaging;
- Turner syndrome;
84.Less common manifestations in TSC

机译：TSC中不太常见的表现
- 作者：Boronat Susana;Barber Ignasi
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2018年第3期
- aneurysms;
- arachnoid cysts;
- bone;
- chordoma;
- unusual;
85.The Turner syndrome research registry: Creating equipoise between investigators and participants

机译：特纳综合征研究注册表：在调查员和参与者之间创建Equipoise
- 作者：Prakash Siddharth K.;Lugo-Ruiz Soniely;Rivera-Davila Michelle;Rubio Nunilo Jr.;Shah Avni N.;Knickmeyer Rebecca C.;Scurlock Cindy;Crenshaw Melissa;Davis Shanlee M.;Lorigan Gary A.;Dorfnnan Aaron T.;Rubin Karen;Maslen Cheryl;Bannba Vaneeta;Kruszka Paul;Silberbach Michael
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第1期
- patient-centered;
- registry;
- research;
- Turner syndrome;
86.Publication schedule for 2019

机译：2019年出版时间表
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第4期
87.Summary of the 3rd international symposium on arthrogryposis

机译：第三次国际血症血清症讨论综述
- 作者：Dahan-Oliel Noemi;Hall Judith;Samargian Ani;Sawatzky Bonita;van Bosse Harold
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第3期
- arthrogryposis;
- assessment tools;
- conference;
- consensus;
- multidisciplinary approach;
88.Phenotypes, pleiotropy, and phylogeny

机译：表型，pleiotropy和系统发生
- 作者：Opitz John M.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2017年第3期
89.Measurement Properties of Clinical Assessment Methods for Classifying Generalized Joint Hypermobility-A Systematic Review

机译：临床评估方法的测量特性，用于分类广义关节高兴 - 一种系统综述
- 作者：Juul-Kristensen Birgit;Schmedling Karoline;Rombaut Lies;Lund Hans;Engelbert Raoul H. H.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2017年第1期
- Beighton tests;
- Carter and Wilkinson;
- Rotes-Querol;
- Hospital del Mar;
- five-part questionnaire;
- self-reported;
- clinimetrics;
- quality assessment;
- COSMIN;
- best evidence synthesis;
90.Research priorities of people living with Turner syndrome

机译：用特纳综合征生活的人的研究优先事项
- 作者：Sandberg David E.;Singer Dianne;Bugajski Benjamin;Gebremariam Achamyeleh;Scerbak Teresa;Maley Kathleen L. Dooley;Scurlock Cindy;Culin Denise;Eder Sally;Silberbach Michael
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第1期
- patient-centered;
- research priorities;
- survey;
- Turner syndrome;
91.Nablus syndrome: Easy to diagnose yet difficult to solve

机译：Nablus综合症：易于诊断，但难以解决
- 作者：Allanson Judith;Smith Amanda;Forzano Francesca;Lin Angela E.;Raas-Rothschild Annick;Howley Heather E.;Boycott Kym M.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2018年第4期
- blepharophimosis;
- bulbous nose;
- deletion 8q;
- Nablus syndrome;
- sparse eyebrows;
- telecanthus;
92.Megalencephaly syndromes associated with mutations of core components of the PI3K‐AKT–MTOR pathway: PIK3CA PIK3CA , PIK3R2 PIK3R2 , AKT3 AKT3 , and MTOR MTOR

机译：与PI3K-AKT-MTOR途径的核心组分突变有关的肿瘤畸形综合症：PIK3CA PIK3CA，PIK3R2 PIK3R2，AKT3 AKT3和MTOR MTOR
- 作者：Dobyns William B.;Mirzaa Ghayda M.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第4期
- AKT3;
- megalencephaly;
- MTOR;
- PIK3CA;
- PIK3R2;
93.Clinical genetic counselors: An asset in the era of precision medicine

机译：临床遗传辅导员：精密医学时代的资产
- 作者：Wicklund Catherine A. L.;Duquette Debra A.;Swanson Amy L.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2018年第1期
94.Genetic rodent models of brain disorders: Perspectives on experimental approaches and therapeutic strategies

机译：脑疾病遗传啮齿动物模型：实验方法和治疗策略的视角
- 作者：McGraw Christopher M.;Ward McGraw;Samaco Rodney C.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2017年第3期
- behavioral genetics;
- behavioral neuroscience;
- CNS disorders;
- preclinical;
- rodent models;
95.Disease coding systems for arthrogryposis multiplex congenita

机译：疾病编码系统，用于血症血清化多重同胞
- 作者：Bedard Tanya;Lowry R. Brian
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2019年第3期
96.Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome

机译：在CHD7中的小脑叶面异常在CHD7中的电荷综合征的小鼠模型中
- 作者：Whittaker Danielle E.;Kasah Sahrunizam;Donovan Alex P. A.;Ellegood Jacob;Riegman Kimberley L. H.;Volk Holger A.;McGonnell Imelda;Lerch Jason P.;Basson M. Albert
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2017年第4期
- cerebellum;
- CHARGE syndrome;
- CHD7;
- fissures;
- foliation;
- mouse;
97.Testicular function in boys with 47,XYY and relationship to phenotype

机译：睾丸功能在47，xyy和表型关系中
- 作者：Shanlee M Davis;Luke Bloy;Timothy P.L. Roberts
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2020年第2期
98.Clinical and molecular effects of CHD7 in the heart

机译：CHD7在心脏中的临床和分子效应
- 作者：Corsten-Janssen Nicole;Scambler Peter J.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2017年第4期
- CHARGE syndrome;
- CHD7;
- congenital heart defects;
99.Minimal mosaicism, maximal phenotype: Discordance between clinical and molecular findings in two patients with tuberous sclerosis

机译：最小的马赛主义，最大表型：两种肿瘤硬化症患者的临床和分子发现之间的不等调
- 作者：Byers Heather M.;Jensen Dana M.;Glass Ian A.;Bennett James T.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2018年第3期
- mosaics;
- tuberous sclerosis;
- tuberous sclerosis complex;
100.Genetic counselors on the frontline of precision health

机译：精密健康前线的遗传辅导员
- 作者：Bamshad Michael J.;Magoulas Pilar L.;Dent Karin M.
- 期刊名称：《American journal of medical genetics, Part C. Seminars in medical genetics》 | 2018年第1期

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