De novo and biallelic DEAF1 variants cause a phenotypic spectrum

Sa Maria J. Nabais; Jensik Philip J.; McGee Stacey R.; Parker Michael J.; Lahiri Nayana; McNeil Evan P.; Kroes Hester Y.; Hagerman Randi J.; Harrison Rachel E.; Montgomery Tara; Splitt Miranda; Palmer Elizabeth E.; Sachdev Rani K.; Mefford Heather C.; Scott Abbey A.; Martinez-Agosto Julian A.; Lorenz Ruediger; Orenstein Naama; Berg Jonathan N.; Amiel Jeanne; Heron Delphine; Keren Boris; Cobben Jan-Maarten; Menke Leonie A.; Marco Elysa J.; Graham John M. Jr.; Pierson Tyler Mark; Karimiani Ehsan Ghayoor; Maroofian Reza; Manzini M. Chiara; Cauley Edmund S.; Colombo Roberto; Odent Sylvie; Dubourg Christele; Phornphutkul Chanika; de Brouwer Arjan P. M.; de Vries Bert B. A.; Vulto-vanSilfhout Anneke T.

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De novo and biallelic DEAF1 variants cause a phenotypic spectrum

机译：de novo和双曲聋聋体变体导致表型光谱

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摘要

Purpose: To investigate the effect of different DEAF1 variants on the phenotype of patients with autosomal dominant and recessive inheritance patterns and on DEAF1 activity in vitro.

机译：目的：探讨不同聋人变体对常染色体显性和隐性遗传型和隐性遗传型和体外聋活度的表型的影响。

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来源
《Genetics in medicine》 |2019年第9期|共11页
作者
Sa Maria J. Nabais; Jensik Philip J.; McGee Stacey R.; Parker Michael J.; Lahiri Nayana; McNeil Evan P.; Kroes Hester Y.; Hagerman Randi J.; Harrison Rachel E.; Montgomery Tara; Splitt Miranda; Palmer Elizabeth E.; Sachdev Rani K.; Mefford Heather C.; Scott Abbey A.; Martinez-Agosto Julian A.; Lorenz Ruediger; Orenstein Naama; Berg Jonathan N.; Amiel Jeanne; Heron Delphine; Keren Boris; Cobben Jan-Maarten; Menke Leonie A.; Marco Elysa J.; Graham John M. Jr.; Pierson Tyler Mark; Karimiani Ehsan Ghayoor; Maroofian Reza; Manzini M. Chiara; Cauley Edmund S.; Colombo Roberto; Odent Sylvie; Dubourg Christele; Phornphutkul Chanika; de Brouwer Arjan P. M.; de Vries Bert B. A.; Vulto-vanSilfhout Anneke T.;
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作者单位

Radboud Univ Nijmegen Med Ctr Dept Human Genet Nijmegen Netherlands;

Southern Illinois Univ Sch Med Dept Physiol Carbondale IL USA;

Southern Illinois Univ Sch Med Dept Physiol Carbondale IL USA;

OPD2 Northern Gen Hosp Sheffield Clin Genet Serv Sheffield S Yorkshire England;

Univ London St Georges Univ Hosp NHS Fdn Trust &

St Georges Dept Clin Genet London England;

Dartmouth Geisel Sch Med Hanover NH USA;

Univ Med Ctr Utrecht Dept Genet Utrecht Netherlands;

Univ Calif Davis Sch Med MIND Inst Sacramento CA 95817 USA;

Nottingham Univ Hosp NHS Trust Dept Clin Genet Nottingham England;

Newcastle Upon Tyne Hosp NHS Fdn Trust Northern Genet Serv Newcastle Upon Tyne Tyne &

Wear;

Newcastle Upon Tyne Hosp NHS Fdn Trust Northern Genet Serv Newcastle Upon Tyne Tyne &

Wear;

Sydney Childrens Hosp Randwick NSW Australia;

Sydney Childrens Hosp Randwick NSW Australia;

Univ Washington Dept Pediat Div Genet Med Seattle WA 98195 USA;

Seattle Childrens Hosp Div Genet Med Seattle WA USA;

UCLA David Geffen Sch Med Dept Human Genet Los Angeles CA 90095 USA;

Ludwig Konrad Str 14 Bad Wildungen Germany;

Schneider Childrens Med Ctr Israel Pediat Genet Clin Petah Tiqwa Israel;

Ninewells Hosp &

Med Sch Dept Clin Genet Dundee Angus Scotland;

Hop Necker Enfants Malad INSERM UMR 1163 Assistance Publ Dept Genet Inst Imagine Paris France;

Hop La Pitie Salpetriere AP HP Dept Genet Paris France;

Hop La Pitie Salpetriere AP HP Dept Genet Paris France;

Univ Amsterdam Med Ctr Dept Pediat Amsterdam Netherlands;

Univ Amsterdam Med Ctr Dept Pediat Amsterdam Netherlands;

Cortica Healthcare Dept Child Neurol San Rafael CA USA;

Cedars Sinai Med Ctr Dept Pediat Div Clin Genet &

Dysmorphol Los Angeles CA 90048 USA;

Cedars Sinai Med Ctr Dept Neurol Dept Pediat Los Angeles CA 90048 USA;

St Georges Univ London Genet Res Ctr Mol &

Clin Sci Inst London England;

St Georges Univ London Genet Res Ctr Mol &

Clin Sci Inst London England;

George Washington Univ Sch Med &

Hlth Sci GW Inst Neurosci Dept Pharmacol &

Physiol Washington;

George Washington Univ Sch Med &

Hlth Sci GW Inst Neurosci Dept Pharmacol &

Physiol Washington;

Agostino Gemelli Catholic Univ Sacred Heart Fac Med Rome Italy;

Univ Rennes CHU Rennes CLAD Ouest IGDR Serv Genet Clin CNRS 6290 Rennes France;

Univ Rennes CHU Rennes CNRS IGDR UMR 6290 Rennes France;

Brown Univ Hasbro Childrens Hosp Warren Alpert Med Sch Dept Pediat Div Human Genet Providence;

Radboud Univ Nijmegen Med Ctr Dept Human Genet Nijmegen Netherlands;

Radboud Univ Nijmegen Med Ctr Dept Human Genet Nijmegen Netherlands;

Radboud Univ Nijmegen Med Ctr Dept Human Genet Nijmegen Netherlands;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词
DEAF1; neurodevelopmental disorder; intellectual disability; genotype; phenotype;

机译：聋哑;神经发育障碍;智力残疾;基因型;表型;

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1. GJB2 235delC纯合突变致聋患者的听力表型分析 [J] . 郭畅, 蒋刈, 黄莎莎, 中华耳科学杂志（英文版） . 2018,第002期
2. De novo and biallelic DEAF1 variants cause a phenotypic spectrum [J] . Sa Maria J. Nabais, Jensik Philip J., McGee Stacey R., Genetics in medicine . 2019,第9期

机译：de novo和双曲聋聋体变体导致表型光谱
3. Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder [J] . Schneeberger Pauline E., Kortuem Fanny, Korenke Georg Christoph, Brain: A journal of neurology . 2020,第Pta8期

机译：双层MADD变体引起从发育延迟到多系统障碍的表型谱
4. Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies [J] . Girisha Katta M., Bhavani Gandham S., Shah Hitesh, American journal of medical genetics, Part A . 2020,第2期

机译：Biallelic变体p.arg1133cys和p.arg1379cys在col2a1中：进一步描绘了隐性2型胶原蛋白的表型谱
5. De novo discovery of phenotypic intra-tumor heterogeneity using MALDI imaging mass spectrometry [C] . Benjamin Balluff, Christian Frese, Stefan K. Maier, ASMS Conference on Mass Spectrometry and Allied Topics . 2014

机译：使用MALDI成像质谱法揭示肿瘤内肿瘤内异质性的Novo发现
6. De novo design of metalloproteins with variant hydrophobic cores [D] . Xie, Fei. 2009

机译：从头开始设计具有变异疏水核心的金属蛋白
7. KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum [O] . Joohyun Park, Mahmoud Koko, Ulrike B. S. Hedrich, 2019

机译：与KCNC1相关的疾病：新的从头变异体扩展了表型谱
8. De novo and biallelic DEAF1 variants cause a phenotypic spectrum [O] . Maria J. Nabais Sá, Philip J. Jensik, Stacey R. McGee, 2019

机译：De Novo和Biallelic Def1变体导致表型光谱

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De novo and biallelic DEAF1 variants cause a phenotypic spectrum

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