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Journal of pediatric genetics

MEDLINE

中文名称：儿科遗传学杂志

ISSN：2146-4596
出版周期：Quarterly

发文量：100

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1.Dent's disease: Identification of seven new pathogenic mutations in the CLCN5 gene

机译：登特氏病：鉴定CLCN5基因中的七个新致病突变
- 作者：Elena Ramos-Trujillo;Felix Claverie-Martin;Victor Garcia-Nieto;Gema Ariceta;Julia Vara;Hilaria Gonzalez-Acosta;Marta Garcia-Ramirez;Jaime Fons;Elizabeth Cordoba-Lanus;Javier Gonzalez-Paredes;Blanca Valenciano;Leticia Ramos;Rafael Muley;Marina Caggiani;Pilar Alvarez-Estrada;Alvaro Madrid
- 期刊名称：《Journal of pediatric genetics》 | 2013年第3期
- Hereditary tubular disorders;
- mutation analysis;
- low-molecular-weight proteinuria;
- hypercalciuria;
- nephrocalcinosis;
- nephrolithiasis;
2.Zellweger syndrome: an older child with progressive foot deformity

机译：Zellweger综合征：年龄较大的儿童，患有进行性足部畸形
- 作者：David Westberry;Linda Pugh
- 期刊名称：《Journal of pediatric genetics》 | 2013年第4期
- Zellweger;
- peroxisomal biogenesis disorder;
3.New AP4B1 mutation in an African-American child associated with intellectual disability

机译：与智力障碍相关的非洲裔美国儿童中的新AP4B1突变
- 作者：Dronacharya Lamichhane
- 期刊名称：《Journal of pediatric genetics》 | 2013年第4期
- Intellectual disability;
- AP4B1;
- hereditary spastic paraplegia;
4.Application of real-time polymerase chain reaction in the clinical genetic practice

机译：实时聚合酶链反应在临床遗传实践中的应用
- 作者：Balint Nagy
- 期刊名称：《Journal of pediatric genetics》 | 2013年第1期
- Real-time PCR;
- microbial genome;
- cystic fibrosis;
- free nucleic acids;
5.Associations between birth and one year anthropometric measurements and IGF2 and IGF2R genetic variants in African American and Caucasian American infants

机译：非洲裔美国人和高加索人婴儿的出生与一年的人体测量值与IGF2和IGF2R遗传变异之间的关联
- 作者：Adriana C. Vidal;Francine Overcash;Susan K. Murphy;Amy P. Murtha;Joellen M. Schildkraut;Michele R Forman;Wendy Demark-Wahnefried;Joanne Kurtzberg;David Skaar;Ry L. Jirtle;Cathrine Hoyo
- 期刊名称：《Journal of pediatric genetics》 | 2013年第3期
- Insulin-like growth factor 2 receptor;
- insulin-like growth factor 2;
- genetic variants;
- African Americans;
- race/ethnicity;
6.Risk assessment models in genetics clinic for array comparative genomic hybridization: Clinical information can be used to predict the likelihood of an abnormal result in patients

机译：遗传学诊所中用于阵列比较基因组杂交的风险评估模型：临床信息可用于预测患者异常结果的可能性
- 作者：Rachel M. Marano;Laura Mercurio;Rebecca Kanter;Richard Doyle;Dianne Abuelo;Eric M. Morrow;Natasha Shur
- 期刊名称：《Journal of pediatric genetics》 | 2013年第1期
- aCGH testing;
- micro-array;
- medical management;
- genetic diagnosis;
- genetic testing;
7.Cerebral hemihypoplasia and nevus flammeus in a child with oromandibular limb hypogenesis syndrome type III

机译：小儿下颌骨发育不全综合征三型患儿脑半发育不全和炎性痣
- 作者：Jaime Toral-Lopez;Tania Cordoba-Cabeza;Maricela Villeda;Gabriel Cortes-Castillo;Juan Carlos Zenteno
- 期刊名称：《Journal of pediatric genetics》 | 2013年第1期
8.A rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome

机译：从头镶嵌的罕见案例：缺失18p和等染色体18q综合征
- 作者：Achira M. Udayakumar;Adila Al-Kindy
- 期刊名称：《Journal of pediatric genetics》 | 2013年第3期
- de Grouchy syndrome;
- monosomy 18p syndrome;
- 18p- syndrome;
- mosaic 18p-/i(18q) syndrome;
- trisomy 18q syndrome;
9.Genetics and non-syndromic facial growth

机译：遗传和非综合征性面部生长
- 作者：James K. Hartsfield;Lorri A. Morford;Liliana M. Otero;David W. Fardo
- 期刊名称：《Journal of pediatric genetics》 | 2013年第1期
- Facial growth;
- oral facial genetics;
- genetics;
- malocclusion;
10.Newborn measles antibody profile in a teaching hospital: Can sex of babies determine measles IgG acquisition from their respective mothers?

机译：一家教学医院的新生儿麻疹抗体谱：婴儿的性别可以决定从其各自母亲那里获得的麻疹IgG吗？
- 作者：Baba Usman Ahmadu;Mava Yakubu;Ibrahim Bello Abdullahi;Ambe Jose Pwavimbo;Talba Aliyu Mahmud;Difirwiti Harry Clapton
- 期刊名称：《Journal of pediatric genetics》 | 2013年第1期
- Maternal measles antibodies;
- sex;
- newborn babies;
- teaching hospital;
- Nigeria;
11.A STAT3 mutation in hyper-immunoglobulin E syndrome: A case report

机译：高免疫球蛋白E综合征STAT3突变1例
- 作者：Filip Haenen;Marielle Alders;Elke Dierckx;Paul Van Schil;Veronique Demeulemeester;Geert Mortier Kristine Desager
- 期刊名称：《Journal of pediatric genetics》 | 2013年第2期
- MeSH;
- STAT3 transcription factor;
- hyper-Ig E syndrome;
- autosomal dominant;
- allergy;
- immunology;
- child;
12.Differential outcomes in an extended family with constitutional t(11;22)(q23.3;q11.2)

机译：体质t（11; 22）（q23.3; q11.2）的大家庭的不同结局
- 作者：Su Keyau Kee;Valene Hsu-Lin See;Patrick Chia;Wei Ching Tan;Sim Leng Tien;Soon Tiong Alvin Lim
- 期刊名称：《Journal of pediatric genetics》 | 2013年第1期
- Emanuel syndrome;
- subfertility;
- miscarriage;
- preimplantation genetic diagnosis;
- +der(22)t(11;
- 22) syndrome;
13.Constitutional trisomy 8 mosaicism syndrome: case report and review

机译：体质三体性8镶嵌症：病例报告和审查
- 作者：Achira M. Udayakumar;Adila Al-Kindy
- 期刊名称：《Journal of pediatric genetics》 | 2013年第4期
- Dysmorphic features;
- FISH;
- trisomy 8 mosaicism;
- Warkany syndrome;
14.Genetic polymorphisms as a risk factor for dyslipidemia in children

机译：遗传多态性是儿童血脂异常的危险因素
- 作者：Izabela R. Santos;Ana Paula Fernes;Marinez O. Sousa;Claudia N. Ferreira Karina B. Gomes
- 期刊名称：《Journal of pediatric genetics》 | 2013年第2期
- Dyslipidemia;
- childhood;
- polymorphism;
- cardiovascular risk;
15.An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation

机译：没有SLC2A2基因突变的印度女孩患有Fanconi-Bickel综合征
- 作者：Devi Dayal;Parag Dekate;Sheetal Sharda;Ashim Das Savita Attri
- 期刊名称：《Journal of pediatric genetics》 | 2013年第2期
- Fanconi-Bickel syndrome;
- hypophosphatemic rickets;
- glycogen storage disease type XI;
16.Inherited 5p deletion syndrome due to paternal balanced translocation: Phenotypic heterogeneity due to duplication of 8q and 12p

机译：父系平衡易位引起的遗传性5p缺失综合征：8q和12p重复造成表型异质性
- 作者：Pankaj Sharma;Neerja Gupta;Madhumita R. Chowdhury;Savita Sapra;Rashmi Shukla;Meena Lall;Madhulika Kabra
- 期刊名称：《Journal of pediatric genetics》 | 2013年第3期
17.Bardet-Biedl syndrome: A rare genetic disease

机译：Bardet-Biedl综合征：一种罕见的遗传病
- 作者：Diana Valverde;Sheila Castro-Sanchez Maria Alvarez-Satta
- 期刊名称：《Journal of pediatric genetics》 | 2013年第2期
- Bardet-Biedl syndrome;
- ciliopathy;
- BBS genes;
- BBS proteins;
18.Clinical findings in children with congenital anomalies and misoprostol intrauterine exposure: a study of 38 cases

机译：先天性异常和米索前列醇宫内暴露患儿的临床发现：38例研究
- 作者：Siulan Vendramini-Pittoli;Maria L. Guion-Almeida;Antonio Richieri-Costa;Juliana M. Santos;Nancy M. Kokitsu-Nakata
- 期刊名称：《Journal of pediatric genetics》 | 2013年第4期
19.Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects

机译：劳氏综合征/ Dent-2疾病：已知和新颖方面的全面综述
- 作者：Florian Recker;Heiko Reutter Michael Ludwig
- 期刊名称：《Journal of pediatric genetics》 | 2013年第2期
20.Discomfort with uncertainty: Is testing for Brugada syndrome in the neonatal period warranted?

机译：不确定性带来的不适感：是否应在新生儿期进行Brugada综合征测试？
- 作者：Michelle N. Vazquez Gabrielle Gold-von Simson
- 期刊名称：《Journal of pediatric genetics》 | 2013年第2期
- Brugada syndrome;
- genetic testing;
- neonatal;
21.ACVRL1 gene variant in a patient with vein of Galen aneurysmal malformation

机译：盖伦动脉瘤畸形静脉患者的ACVRL1基因变异
- 作者：Ayako Chida;Masaki Shintani;Hajime Wakamatsu;Yoshiyuki Tsutsumi;Yuo Iizuka;Nanako Kawaguchi;Yoshiyuki Furutani;Kei Inai;Shigeaki Nonoyama;Toshio Nakanishi
- 期刊名称：《Journal of pediatric genetics》 | 2013年第4期
- ACVRL1;
- gene variant;
- vein of Galen aneurysmal malformation;
22.Otopalatodigital syndrome type 2 in a male infant: A case report with a novel sequence variation

机译：一名男婴的足音趾综合症2型：一例报告，其序列具有新颖性
- 作者：Senthilkumar Sankararaman;Dalibor Kurepa;Yiping Shen;Venkatakrishna Kakkilaya;Sussone Ursin;Harold Chen
- 期刊名称：《Journal of pediatric genetics》 | 2013年第1期
- Otopalatodigital syndrome type 2;
- FLNA gene;
- filamin A;
23.20q13.2-q13.33 deletion syndrome: A case report

机译：20q13.2-q13.33缺失综合征：一例报告
- 作者：Merlin G. Butler;Kelly M. Usrey;Jennifer L. Roberts;Ann M. Manzardo;Stephen R;Schroeder
- 期刊名称：《Journal of pediatric genetics》 | 2013年第3期
- Microarray analysis;
- 20q13 deletion;
- intellectual disability;
- atypical development;
- dysmorphic features;
- cleft lip;
24.CTNS gene analysis emphasizes diagnostic value of eye examination in patients with cystinosis

机译：CTNS基因分析强调眼部检查对胱氨酸症患者的诊断价值
- 作者：Miguel A. Alcantara-Ortigoza;Astrid B. Martinez-Bernal;Leticia Belmont-Martfnez;Marcela Vela-Amieva;Ariadna Gonzalez-del Angel
- 期刊名称：《Journal of pediatric genetics》 | 2013年第3期
- Infantile nephropathic cystinosis;
- corneal cystine crystals;
- CTNS gene;
- lysosomal storage diseases;
- molecular diagnosis;
25.Birth defects: Risk factors and consequences

机译：出生缺陷：危险因素和后果
- 作者：Camila Ive Ferreira Oliveira Agnes Cristina Fett-Conte
- 期刊名称：《Journal of pediatric genetics》 | 2013年第2期
- Congenital anomalies;
- congenital malformation;
- chromosomal abnormalities;
26.Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients

机译：3名无亲缘关系患者环形染色体13的分子细胞遗传学和表型特征
- 作者：Inesse B. Abdallah-Bouhjar;Soumaya Mougou-Zerelli;Hanene Hannachi;Abir Gmidene;Audrey Labalme;Najla Soyah;Damien Sanlaville;Ali Saad;Hatem Elghezal
- 期刊名称：《Journal of pediatric genetics》 | 2013年第3期
- Array-CGH;
- FISH;
- intellectual disability;
- ring chromosome 13;
27.IGF1R mutation analysis in short children with Silver-Russell syndrome features

机译：银-罗素综合征特征的矮小儿童IGF1R突变分析
- 作者：Lukas Soellner;Sabrina Spengler;Matthias Begemann;Hartmut A. Wollmann;Gerhard Binder;Thomas Eggermann
- 期刊名称：《Journal of pediatric genetics》 | 2013年第3期
- 1GF1R mutations;
- growth retardation;
- Silver-Russell syndrome;
28.Terminal 6p deletion syndrome mimicking CHARGE syndrome: A case report

机译：模仿CHARGE综合征的终末6p缺失综合征：一例报告
- 作者：Gabrielle Freire;Laura Russell Maryam Oskoui
- 期刊名称：《Journal of pediatric genetics》 | 2013年第2期
- CHARGE syndrome;
- 6p deletion syndrome;
- CHD7 mutation;
29.Bardet-Biedl syndrome in two sisters A rare incidence

机译：两姐妹的Bardet-Biedl综合征极少发生
- 作者：Chaitanya Varma;Ramesh Y. Bhat;Sonia Bhatt
- 期刊名称：《Journal of pediatric genetics》 | 2013年第1期
- Bardet-Biedl;
- hypogonadism;
- polydactyly;
- retinal dystrophy;
- sibling;
30.Pediatric genetic ocular tumors

机译：小儿遗传性眼肿瘤
- 作者：Behnaz Rouhani Aparna Ramasubramanian
- 期刊名称：《Journal of pediatric genetics》 | 2014年第4期
- Tumors;
- genetic;
- retinoblastoma;
- tuberous sclerosis;
- von Hippel-Lindau syndrome;
- neurofibromatosis;
- Gardner syndrome;
- Gorlin-Gotz syndrome;
- optic nerve glioma;
31.Congenital optic nerve anomalies and hereditary optic neuropathies

机译：先天性视神经异常和遗传性视神经病变
- 作者：Gena Heidary
- 期刊名称：《Journal of pediatric genetics》 | 2014年第4期
- Optic nerve;
- coloboma;
- optic nerve hypoplasia;
- hereditary optic neuropathy;
- Aicardi syndrome;
- optic nerve drusen;
- optic nerve pit;
- morning glory disc;
32.Adiponectin gene polymorphisms: Association with childhood obesity

机译：脂联素基因多态性与儿童肥胖的关系
- 作者：Vanessa Gomes Fraga;Karina Braga Gomes
- 期刊名称：《Journal of pediatric genetics》 | 2014年第1期
- Adiponectin;
- adipokines;
- childhood obesity;
- polymorphisms;
33.Pediatric genetic diseases causing glaucoma

机译：引起青光眼的小儿遗传疾病
- 作者：Paral Ichhpojani Rohan B. Singh
- 期刊名称：《Journal of pediatric genetics》 | 2014年第4期
34.The role of the cilium in hereditary tumor predisposition syndromes

机译：纤毛在遗传性肿瘤易感综合征中的作用
- 作者：Timothy D. Klasson Rachel H. Giles
- 期刊名称：《Journal of pediatric genetics》 | 2014年第2期
- Cilia;
- von Hippel-Lindau disease;
- cyst;
- renal cell carcinoma;
- medulloblastoma;
35.Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene

机译：由于FBN2基因中的新型剪接位点突变，导致先天性挛缩蛛网膜
- 作者：Department of Pediatrics;Division of Neonatology;Sri Aurobindo Institute of Medical Sciences;Indore;Madhya Pradesh;India
- 期刊名称：《Journal of pediatric genetics》 | 2014年第3期
- Beals syndrome;
- congenital contractures;
- fibrillin-2;
- novel mutation;
36.Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism

机译：Pitt-Hopkins综合征：智力低下，精神运动和发育迟缓与面部畸形
- 作者：Jorge Arturo Avina Fierro Daniel Alejro Hernez Avina
- 期刊名称：《Journal of pediatric genetics》 | 2014年第3期
- Pitts-Hopkins syndrome;
- facial dysmoiphism;
- TCF4 phenotype;
37.Pediatric genetic macular and choroidal diseases

机译：小儿遗传性黄斑和脉络膜疾病
- 作者：Mica Y. Bergman Sudha Nallasamy
- 期刊名称：《Journal of pediatric genetics》 | 2014年第4期
- Genetic macular disorders;
- genetic choroidal disorders;
- macular dystrophy;
38.Ciliary disturbances in syndromal and non-syndromal obesity

机译：症状性和非症状性肥胖的睫状体疾病
- 作者：Tamar I. de Vries Mieke M. van Haelst
- 期刊名称：《Journal of pediatric genetics》 | 2014年第2期
- Obesity;
- ciliopathy;
- Bardet-Biedl syndrome. Alstrom syndrome;
- genetics;
39.Medical genetics of ciliopathies

机译：纤毛虫病的医学遗传学
- 作者：Dorus A. Mans Heleen H. Arts
- 期刊名称：《Journal of pediatric genetics》 | 2014年第2期
40.Genetic pediatric retinal diseases

机译：遗传性小儿视网膜疾病
- 作者：Emil Anthony T. Say
- 期刊名称：《Journal of pediatric genetics》 | 2014年第4期
- Hereditary retinal disease;
- pediatric retina;
- color blindness;
- night blindness;
- retinal vascular disease;
- retinal detachment;
- retinoschisis;
- vitreoretinopathy;
- albinism;
41.The recurrent causal mutation for osteogenesis imperfecta type V occurs at a highly methylated CpG dinucleotide within the IFITM5 gene

机译：V型成骨不全症的反复因果突变发生在IFITM5基因内的高度甲基化的CpG二核苷酸处
- 作者：Massimiliano Corradi;Elena Monti;Giacomo Venturi;Alberto Gini;Monica Mottes;Franco Antoniazzi
- 期刊名称：《Journal of pediatric genetics》 | 2014年第1期
- Osteogenesis imperfecta;
- IFITM5;
- DNA methylation;
- CpG dinucleotide deamination;
42.Introduction to pediatric genetic eye diseases

机译：儿科遗传性眼病简介
- 作者：Mansi Patel Apama Ramasubramanian
- 期刊名称：《Journal of pediatric genetics》 | 2014年第4期
43.Precision in chromosome identification with leads in molecular cytogenetics: An illustrated review

机译：分子细胞遗传学中的先导在染色体鉴定中的准确性：图解说明
- 作者：Usha R. Dutta
- 期刊名称：《Journal of pediatric genetics》 | 2014年第1期
- Molecular cytogenetic techniques;
- FISH;
- SKY;
- array CGH;
- MLPA;
44.Osteogenesis imperfecta caused by PPIB mutation with severe phenotype and congenital hearing loss

机译：严重表型和先天性听力下降的PPIB突变引起的成骨不全
- 作者：Eric T. Rush;Kathleen S. Caldwell;Rose M. Kreikemeier;Richard E. Lutz;Paul W. Esposito
- 期刊名称：《Journal of pediatric genetics》 | 2014年第1期
- Osteogenesis imperfecta;
- PPIB;
- skeletal dysplasia;
- metabolic bone disease;
- hearing loss;
- collagen diseases;
- brittle bone disease;
45.Autosomal recessive polycystic kidney disease: The prototype of the hepato-renal fibrocystic diseases

机译：常染色体隐性隐性多囊肾疾病：肝肾纤维囊性疾病的原型
- 作者：Lisa M. Guay-Woodford
- 期刊名称：《Journal of pediatric genetics》 | 2014年第2期
- ARPKD;
- hepato-renal fibrocystic disease;
- primary cilium. PKHD1 mouse models;
46.MURCS association with situs inversus totalis: Expanding the spectrum or a novel disorder

机译：MURCS与总部位逆转的关联：扩展频谱或一种新型疾病
- 作者：Alka V. Ekbote;Mohan S. Kamath Sumita Da
- 期刊名称：《Journal of pediatric genetics》 | 2014年第3期
- Dextrocardia;
- situs inversus;
- Klippel-Feil anomaly;
- hemivertebra;
- septate uterus;
- facial asymmetry;
47.A recurrent fibrillin-1 mutation in severe early onset Marfan syndrome

机译：重度早期马凡氏综合征的复发性原纤维蛋白-1突变
- 作者：Dimple Sureka;Chantal Stheneur;Sylvie Odent;Gavin Arno;Daniel Murphy
- 期刊名称：《Journal of pediatric genetics》 | 2014年第3期
- FBN1;
- genotype-phenotype correlation;
- Marfan syndrome;
- severe early onset;
48.Signs and symptoms of genetic conditions -A handbook

机译：遗传病的体征和症状-手册
- 作者：Joann N. Bodurtha Jessica Duis
- 期刊名称：《Journal of pediatric genetics》 | 2014年第3期
49.Genetics of strabismus and lid diseases

机译：斜视和眼睑疾病的遗传
- 作者：Mohammad Ali A. Sadiq Munib ur Rehman
- 期刊名称：《Journal of pediatric genetics》 | 2014年第4期
- Genetics;
- eyelid;
- strabismus;
- chronic progressive external ophthalmoplegia;
- blepharophimosis;
- myasthenie syndromes;
- Mobius syndrome;
50.Pediatric genetic disorders of lens

机译：小儿晶状体遗传疾病
- 作者：Bharti R. Nihalani
- 期刊名称：《Journal of pediatric genetics》 | 2014年第4期
- Genetic disorders of lens;
- congenital cataract;
- syndromic cataract;
51.Dent's disease: Identification of seven new pathogenic mutations in the CLCN5 gene

机译：登特氏病：鉴定CLCN5基因中的七个新致病突变
- 作者：Elena Ramos-Trujillo;Felix Claverie-Martin;Victor Garcia-Nieto;Gema Ariceta;Julia Vara;Hilaria Gonzalez-Acosta;Marta Garcia-Ramirez;Jaime Fons;Elizabeth Cordoba-Lanus;Javier Gonzalez-Paredes;Blanca Valenciano;Leticia Ramos;Rafael Muley;Marina Caggiani;Pilar Alvarez-Estrada;Alvaro Madrid
- 期刊名称：《Journal of pediatric genetics》 | 2013年第3期
- Hereditary tubular disorders;
- mutation analysis;
- low-molecular-weight proteinuria;
- hypercalciuria;
- nephrocalcinosis;
- nephrolithiasis;
52.Zellweger syndrome: an older child with progressive foot deformity

机译：Zellweger综合征：年龄较大的儿童，患有进行性足部畸形
- 作者：David Westberry;Linda Pugh
- 期刊名称：《Journal of pediatric genetics》 | 2013年第4期
- Zellweger;
- peroxisomal biogenesis disorder;
53.New AP4B1 mutation in an African-American child associated with intellectual disability

机译：与智力障碍相关的非洲裔美国儿童中的新AP4B1突变
- 作者：Dronacharya Lamichhane
- 期刊名称：《Journal of pediatric genetics》 | 2013年第4期
- Intellectual disability;
- AP4B1;
- hereditary spastic paraplegia;
54.Application of real-time polymerase chain reaction in the clinical genetic practice

机译：实时聚合酶链反应在临床遗传实践中的应用
- 作者：Balint Nagy
- 期刊名称：《Journal of pediatric genetics》 | 2013年第1期
- Real-time PCR;
- microbial genome;
- cystic fibrosis;
- free nucleic acids;
55.Associations between birth and one year anthropometric measurements and IGF2 and IGF2R genetic variants in African American and Caucasian American infants

机译：非洲裔美国人和高加索人婴儿的出生与一年的人体测量值与IGF2和IGF2R遗传变异之间的关联
- 作者：Adriana C. Vidal;Francine Overcash;Susan K. Murphy;Amy P. Murtha;Joellen M. Schildkraut;Michele R Forman;Wendy Demark-Wahnefried;Joanne Kurtzberg;David Skaar;Ry L. Jirtle;Cathrine Hoyo
- 期刊名称：《Journal of pediatric genetics》 | 2013年第3期
- Insulin-like growth factor 2 receptor;
- insulin-like growth factor 2;
- genetic variants;
- African Americans;
- race/ethnicity;
56.Risk assessment models in genetics clinic for array comparative genomic hybridization: Clinical information can be used to predict the likelihood of an abnormal result in patients

机译：遗传学诊所中用于阵列比较基因组杂交的风险评估模型：临床信息可用于预测患者异常结果的可能性
- 作者：Rachel M. Marano;Laura Mercurio;Rebecca Kanter;Richard Doyle;Dianne Abuelo;Eric M. Morrow;Natasha Shur
- 期刊名称：《Journal of pediatric genetics》 | 2013年第1期
- aCGH testing;
- micro-array;
- medical management;
- genetic diagnosis;
- genetic testing;
57.Cerebral hemihypoplasia and nevus flammeus in a child with oromandibular limb hypogenesis syndrome type III

机译：小儿下颌骨发育不全综合征三型患儿脑半发育不全和炎性痣
- 作者：Jaime Toral-Lopez;Tania Cordoba-Cabeza;Maricela Villeda;Gabriel Cortes-Castillo;Juan Carlos Zenteno
- 期刊名称：《Journal of pediatric genetics》 | 2013年第1期
58.Genetics and non-syndromic facial growth

机译：遗传和非综合征性面部生长
- 作者：James K. Hartsfield;Lorri A. Morford;Liliana M. Otero;David W. Fardo
- 期刊名称：《Journal of pediatric genetics》 | 2013年第1期
- Facial growth;
- oral facial genetics;
- genetics;
- malocclusion;
59.Newborn measles antibody profile in a teaching hospital: Can sex of babies determine measles IgG acquisition from their respective mothers?

机译：一家教学医院的新生儿麻疹抗体谱：婴儿的性别可以决定从其各自母亲那里获得的麻疹IgG吗？
- 作者：Baba Usman Ahmadu;Mava Yakubu;Ibrahim Bello Abdullahi;Ambe Jose Pwavimbo;Talba Aliyu Mahmud;Difirwiti Harry Clapton
- 期刊名称：《Journal of pediatric genetics》 | 2013年第1期
- Maternal measles antibodies;
- sex;
- newborn babies;
- teaching hospital;
- Nigeria;
60.A rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome

机译：从头镶嵌的罕见案例：缺失18p和等染色体18q综合征
- 作者：Achira M. Udayakumar;Adila Al-Kindy
- 期刊名称：《Journal of pediatric genetics》 | 2013年第3期
- de Grouchy syndrome;
- monosomy 18p syndrome;
- 18p- syndrome;
- mosaic 18p-/i(18q) syndrome;
- trisomy 18q syndrome;
61.A STAT3 mutation in hyper-immunoglobulin E syndrome: A case report

机译：高免疫球蛋白E综合征STAT3突变1例
- 作者：Filip Haenen;Marielle Alders;Elke Dierckx;Paul Van Schil;Veronique Demeulemeester;Geert Mortier Kristine Desager
- 期刊名称：《Journal of pediatric genetics》 | 2013年第2期
- MeSH;
- STAT3 transcription factor;
- hyper-Ig E syndrome;
- autosomal dominant;
- allergy;
- immunology;
- child;
62.Differential outcomes in an extended family with constitutional t(11;22)(q23.3;q11.2)

机译：体质t（11; 22）（q23.3; q11.2）的大家庭的不同结局
- 作者：Su Keyau Kee;Valene Hsu-Lin See;Patrick Chia;Wei Ching Tan;Sim Leng Tien;Soon Tiong Alvin Lim
- 期刊名称：《Journal of pediatric genetics》 | 2013年第1期
- Emanuel syndrome;
- subfertility;
- miscarriage;
- preimplantation genetic diagnosis;
- +der(22)t(11;
- 22) syndrome;
63.An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation

机译：没有SLC2A2基因突变的印度女孩患有Fanconi-Bickel综合征
- 作者：Devi Dayal;Parag Dekate;Sheetal Sharda;Ashim Das Savita Attri
- 期刊名称：《Journal of pediatric genetics》 | 2013年第2期
- Fanconi-Bickel syndrome;
- hypophosphatemic rickets;
- glycogen storage disease type XI;
64.Constitutional trisomy 8 mosaicism syndrome: case report and review

机译：体质三体性8镶嵌症：病例报告和审查
- 作者：Achira M. Udayakumar;Adila Al-Kindy
- 期刊名称：《Journal of pediatric genetics》 | 2013年第4期
- Dysmorphic features;
- FISH;
- trisomy 8 mosaicism;
- Warkany syndrome;
65.Genetic polymorphisms as a risk factor for dyslipidemia in children

机译：遗传多态性是儿童血脂异常的危险因素
- 作者：Izabela R. Santos;Ana Paula Fernes;Marinez O. Sousa;Claudia N. Ferreira Karina B. Gomes
- 期刊名称：《Journal of pediatric genetics》 | 2013年第2期
- Dyslipidemia;
- childhood;
- polymorphism;
- cardiovascular risk;
66.Inherited 5p deletion syndrome due to paternal balanced translocation: Phenotypic heterogeneity due to duplication of 8q and 12p

机译：父系平衡易位引起的遗传性5p缺失综合征：8q和12p重复造成表型异质性
- 作者：Pankaj Sharma;Neerja Gupta;Madhumita R. Chowdhury;Savita Sapra;Rashmi Shukla;Meena Lall;Madhulika Kabra
- 期刊名称：《Journal of pediatric genetics》 | 2013年第3期
67.Bardet-Biedl syndrome: A rare genetic disease

机译：Bardet-Biedl综合征：一种罕见的遗传病
- 作者：Diana Valverde;Sheila Castro-Sanchez Maria Alvarez-Satta
- 期刊名称：《Journal of pediatric genetics》 | 2013年第2期
- Bardet-Biedl syndrome;
- ciliopathy;
- BBS genes;
- BBS proteins;
68.Discomfort with uncertainty: Is testing for Brugada syndrome in the neonatal period warranted?

机译：不确定性带来的不适感：是否应在新生儿期进行Brugada综合征测试？
- 作者：Michelle N. Vazquez Gabrielle Gold-von Simson
- 期刊名称：《Journal of pediatric genetics》 | 2013年第2期
- Brugada syndrome;
- genetic testing;
- neonatal;
69.Clinical findings in children with congenital anomalies and misoprostol intrauterine exposure: a study of 38 cases

机译：先天性异常和米索前列醇宫内暴露患儿的临床发现：38例研究
- 作者：Siulan Vendramini-Pittoli;Maria L. Guion-Almeida;Antonio Richieri-Costa;Juliana M. Santos;Nancy M. Kokitsu-Nakata
- 期刊名称：《Journal of pediatric genetics》 | 2013年第4期
70.Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects

机译：劳氏综合征/ Dent-2疾病：已知和新颖方面的全面综述
- 作者：Florian Recker;Heiko Reutter Michael Ludwig
- 期刊名称：《Journal of pediatric genetics》 | 2013年第2期
71.Otopalatodigital syndrome type 2 in a male infant: A case report with a novel sequence variation

机译：一名男婴的足音趾综合症2型：一例报告，其序列具有新颖性
- 作者：Senthilkumar Sankararaman;Dalibor Kurepa;Yiping Shen;Venkatakrishna Kakkilaya;Sussone Ursin;Harold Chen
- 期刊名称：《Journal of pediatric genetics》 | 2013年第1期
- Otopalatodigital syndrome type 2;
- FLNA gene;
- filamin A;
72.ACVRL1 gene variant in a patient with vein of Galen aneurysmal malformation

机译：盖伦动脉瘤畸形静脉患者的ACVRL1基因变异
- 作者：Ayako Chida;Masaki Shintani;Hajime Wakamatsu;Yoshiyuki Tsutsumi;Yuo Iizuka;Nanako Kawaguchi;Yoshiyuki Furutani;Kei Inai;Shigeaki Nonoyama;Toshio Nakanishi
- 期刊名称：《Journal of pediatric genetics》 | 2013年第4期
- ACVRL1;
- gene variant;
- vein of Galen aneurysmal malformation;
73.20q13.2-q13.33 deletion syndrome: A case report

机译：20q13.2-q13.33缺失综合征：一例报告
- 作者：Merlin G. Butler;Kelly M. Usrey;Jennifer L. Roberts;Ann M. Manzardo;Stephen R;Schroeder
- 期刊名称：《Journal of pediatric genetics》 | 2013年第3期
- Microarray analysis;
- 20q13 deletion;
- intellectual disability;
- atypical development;
- dysmorphic features;
- cleft lip;
74.IGF1R mutation analysis in short children with Silver-Russell syndrome features

机译：银-罗素综合征特征的矮小儿童IGF1R突变分析
- 作者：Lukas Soellner;Sabrina Spengler;Matthias Begemann;Hartmut A. Wollmann;Gerhard Binder;Thomas Eggermann
- 期刊名称：《Journal of pediatric genetics》 | 2013年第3期
- 1GF1R mutations;
- growth retardation;
- Silver-Russell syndrome;
75.CTNS gene analysis emphasizes diagnostic value of eye examination in patients with cystinosis

机译：CTNS基因分析强调眼部检查对胱氨酸症患者的诊断价值
- 作者：Miguel A. Alcantara-Ortigoza;Astrid B. Martinez-Bernal;Leticia Belmont-Martfnez;Marcela Vela-Amieva;Ariadna Gonzalez-del Angel
- 期刊名称：《Journal of pediatric genetics》 | 2013年第3期
- Infantile nephropathic cystinosis;
- corneal cystine crystals;
- CTNS gene;
- lysosomal storage diseases;
- molecular diagnosis;
76.Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients

机译：3名无亲缘关系患者环形染色体13的分子细胞遗传学和表型特征
- 作者：Inesse B. Abdallah-Bouhjar;Soumaya Mougou-Zerelli;Hanene Hannachi;Abir Gmidene;Audrey Labalme;Najla Soyah;Damien Sanlaville;Ali Saad;Hatem Elghezal
- 期刊名称：《Journal of pediatric genetics》 | 2013年第3期
- Array-CGH;
- FISH;
- intellectual disability;
- ring chromosome 13;
77.Bardet-Biedl syndrome in two sisters A rare incidence

机译：两姐妹的Bardet-Biedl综合征极少发生
- 作者：Chaitanya Varma;Ramesh Y. Bhat;Sonia Bhatt
- 期刊名称：《Journal of pediatric genetics》 | 2013年第1期
- Bardet-Biedl;
- hypogonadism;
- polydactyly;
- retinal dystrophy;
- sibling;
78.Birth defects: Risk factors and consequences

机译：出生缺陷：危险因素和后果
- 作者：Camila Ive Ferreira Oliveira Agnes Cristina Fett-Conte
- 期刊名称：《Journal of pediatric genetics》 | 2013年第2期
- Congenital anomalies;
- congenital malformation;
- chromosomal abnormalities;
79.Terminal 6p deletion syndrome mimicking CHARGE syndrome: A case report

机译：模仿CHARGE综合征的终末6p缺失综合征：一例报告
- 作者：Gabrielle Freire;Laura Russell Maryam Oskoui
- 期刊名称：《Journal of pediatric genetics》 | 2013年第2期
- CHARGE syndrome;
- 6p deletion syndrome;
- CHD7 mutation;
80.Congenital optic nerve anomalies and hereditary optic neuropathies

机译：先天性视神经异常和遗传性视神经病变
- 作者：Gena Heidary
- 期刊名称：《Journal of pediatric genetics》 | 2014年第4期
- Optic nerve;
- coloboma;
- optic nerve hypoplasia;
- hereditary optic neuropathy;
- Aicardi syndrome;
- optic nerve drusen;
- optic nerve pit;
- morning glory disc;
81.Pediatric genetic ocular tumors

机译：小儿遗传性眼肿瘤
- 作者：Behnaz Rouhani Aparna Ramasubramanian
- 期刊名称：《Journal of pediatric genetics》 | 2014年第4期
- Tumors;
- genetic;
- retinoblastoma;
- tuberous sclerosis;
- von Hippel-Lindau syndrome;
- neurofibromatosis;
- Gardner syndrome;
- Gorlin-Gotz syndrome;
- optic nerve glioma;
82.Adiponectin gene polymorphisms: Association with childhood obesity

机译：脂联素基因多态性与儿童肥胖的关系
- 作者：Vanessa Gomes Fraga;Karina Braga Gomes
- 期刊名称：《Journal of pediatric genetics》 | 2014年第1期
- Adiponectin;
- adipokines;
- childhood obesity;
- polymorphisms;
83.Pediatric genetic diseases causing glaucoma

机译：引起青光眼的小儿遗传疾病
- 作者：Paral Ichhpojani Rohan B. Singh
- 期刊名称：《Journal of pediatric genetics》 | 2014年第4期
84.Ciliary disturbances in syndromal and non-syndromal obesity

机译：症状性和非症状性肥胖的睫状体疾病
- 作者：Tamar I. de Vries Mieke M. van Haelst
- 期刊名称：《Journal of pediatric genetics》 | 2014年第2期
- Obesity;
- ciliopathy;
- Bardet-Biedl syndrome. Alstrom syndrome;
- genetics;
85.Pediatric genetic macular and choroidal diseases

机译：小儿遗传性黄斑和脉络膜疾病
- 作者：Mica Y. Bergman Sudha Nallasamy
- 期刊名称：《Journal of pediatric genetics》 | 2014年第4期
- Genetic macular disorders;
- genetic choroidal disorders;
- macular dystrophy;
86.Medical genetics of ciliopathies

机译：纤毛虫病的医学遗传学
- 作者：Dorus A. Mans Heleen H. Arts
- 期刊名称：《Journal of pediatric genetics》 | 2014年第2期
87.The role of the cilium in hereditary tumor predisposition syndromes

机译：纤毛在遗传性肿瘤易感综合征中的作用
- 作者：Timothy D. Klasson Rachel H. Giles
- 期刊名称：《Journal of pediatric genetics》 | 2014年第2期
- Cilia;
- von Hippel-Lindau disease;
- cyst;
- renal cell carcinoma;
- medulloblastoma;
88.Genetic pediatric retinal diseases

机译：遗传性小儿视网膜疾病
- 作者：Emil Anthony T. Say
- 期刊名称：《Journal of pediatric genetics》 | 2014年第4期
- Hereditary retinal disease;
- pediatric retina;
- color blindness;
- night blindness;
- retinal vascular disease;
- retinal detachment;
- retinoschisis;
- vitreoretinopathy;
- albinism;
89.Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism

机译：Pitt-Hopkins综合征：智力低下，精神运动和发育迟缓与面部畸形
- 作者：Jorge Arturo Avina Fierro Daniel Alejro Hernez Avina
- 期刊名称：《Journal of pediatric genetics》 | 2014年第3期
- Pitts-Hopkins syndrome;
- facial dysmoiphism;
- TCF4 phenotype;
90.The recurrent causal mutation for osteogenesis imperfecta type V occurs at a highly methylated CpG dinucleotide within the IFITM5 gene

机译：V型成骨不全症的反复因果突变发生在IFITM5基因内的高度甲基化的CpG二核苷酸处
- 作者：Massimiliano Corradi;Elena Monti;Giacomo Venturi;Alberto Gini;Monica Mottes;Franco Antoniazzi
- 期刊名称：《Journal of pediatric genetics》 | 2014年第1期
- Osteogenesis imperfecta;
- IFITM5;
- DNA methylation;
- CpG dinucleotide deamination;
91.Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene

机译：由于FBN2基因中的新型剪接位点突变，导致先天性挛缩蛛网膜
- 作者：Department of Pediatrics;Division of Neonatology;Sri Aurobindo Institute of Medical Sciences;Indore;Madhya Pradesh;India
- 期刊名称：《Journal of pediatric genetics》 | 2014年第3期
- Beals syndrome;
- congenital contractures;
- fibrillin-2;
- novel mutation;
92.Introduction to pediatric genetic eye diseases

机译：儿科遗传性眼病简介
- 作者：Mansi Patel Apama Ramasubramanian
- 期刊名称：《Journal of pediatric genetics》 | 2014年第4期
93.Osteogenesis imperfecta caused by PPIB mutation with severe phenotype and congenital hearing loss

机译：严重表型和先天性听力下降的PPIB突变引起的成骨不全
- 作者：Eric T. Rush;Kathleen S. Caldwell;Rose M. Kreikemeier;Richard E. Lutz;Paul W. Esposito
- 期刊名称：《Journal of pediatric genetics》 | 2014年第1期
- Osteogenesis imperfecta;
- PPIB;
- skeletal dysplasia;
- metabolic bone disease;
- hearing loss;
- collagen diseases;
- brittle bone disease;
94.Precision in chromosome identification with leads in molecular cytogenetics: An illustrated review

机译：分子细胞遗传学中的先导在染色体鉴定中的准确性：图解说明
- 作者：Usha R. Dutta
- 期刊名称：《Journal of pediatric genetics》 | 2014年第1期
- Molecular cytogenetic techniques;
- FISH;
- SKY;
- array CGH;
- MLPA;
95.Autosomal recessive polycystic kidney disease: The prototype of the hepato-renal fibrocystic diseases

机译：常染色体隐性隐性多囊肾疾病：肝肾纤维囊性疾病的原型
- 作者：Lisa M. Guay-Woodford
- 期刊名称：《Journal of pediatric genetics》 | 2014年第2期
- ARPKD;
- hepato-renal fibrocystic disease;
- primary cilium. PKHD1 mouse models;
96.A recurrent fibrillin-1 mutation in severe early onset Marfan syndrome

机译：重度早期马凡氏综合征的复发性原纤维蛋白-1突变
- 作者：Dimple Sureka;Chantal Stheneur;Sylvie Odent;Gavin Arno;Daniel Murphy
- 期刊名称：《Journal of pediatric genetics》 | 2014年第3期
- FBN1;
- genotype-phenotype correlation;
- Marfan syndrome;
- severe early onset;
97.MURCS association with situs inversus totalis: Expanding the spectrum or a novel disorder

机译：MURCS与总部位逆转的关联：扩展频谱或一种新型疾病
- 作者：Alka V. Ekbote;Mohan S. Kamath Sumita Da
- 期刊名称：《Journal of pediatric genetics》 | 2014年第3期
- Dextrocardia;
- situs inversus;
- Klippel-Feil anomaly;
- hemivertebra;
- septate uterus;
- facial asymmetry;
98.Signs and symptoms of genetic conditions -A handbook

机译：遗传病的体征和症状-手册
- 作者：Joann N. Bodurtha Jessica Duis
- 期刊名称：《Journal of pediatric genetics》 | 2014年第3期
99.Genetics of strabismus and lid diseases

机译：斜视和眼睑疾病的遗传
- 作者：Mohammad Ali A. Sadiq Munib ur Rehman
- 期刊名称：《Journal of pediatric genetics》 | 2014年第4期
- Genetics;
- eyelid;
- strabismus;
- chronic progressive external ophthalmoplegia;
- blepharophimosis;
- myasthenie syndromes;
- Mobius syndrome;
100.Clinical presentation of two P-thalassemic Indian patients with Ip36 deletion syndrome: Case report

机译：两名印度P-地中海贫血患者Ip36缺失综合征的临床表现：病例报告
- 作者：Puspal De;Tridip Chatterjee;Sudipa Chakravarty Amit Chakravarty
- 期刊名称：《Journal of pediatric genetics》 | 2014年第3期
- HPLC;
- ARMS-PCR;
- cytogenetics;
- microdeletion;

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