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1
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10
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Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10

Karin Frank-Raue Lisa A Rybicki; Zoran Erlic; Heiko Schweizer; Aurelia Winter; Ioana Milos; Sergio Pereira de Almeida Toledo; Rodrigo A Toledo; Marcos R Tavares; Maria Alevizaki; Caterina Mian; Heide Siggelkow; Michael Hüfner; Nelson Wohllk; Giuseppe Opocher; Šárka Dvořáková; Bela Bendlova; Małgorzata Czetwertynska; Elżbieta Skasko; Marta Barontini; Gabriela Sanso; Christian Vorländer; Ana Luiza Maia; Attila Patocs; Thera P Links; Jan Willem de Groot; Michiel N Kerstens; Gerlof D Valk; Konstanze Miehle; Thomas J Musholt; Josefina Biarnes; Svetozar Damjanovic; Mihaela Muresan; Christian Wüster; Martin Fassnacht; Mariola Peczkowska; Christine Fauth; Henriette Golcher; Martin A Walter; Josef Pichl; Friedhelm Raue; Charis Eng; Hartmut P. H Neumann

Human mutation New York v. 32, n. 1, p. 51-58, 2011

New York 2011

Localização: FM - Fac. Medicina    (BCSEP 451 2011 )(Acessar)

2
Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency
Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency
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Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

Berryer, Martin H. ; Hamdan, Fadi F. ; Klitten, Laura L. ; Møller, Rikke S. ; Carmant, Lionel ; Schwartzentruber, Jeremy ; Patry, Lysanne ; Dobrzeniecka, Sylvia ; Rochefort, Daniel ; Neugnot-Cerioli, Mathilde ; Lacaille, Jean-Claude ; Niu, Zhiyv ; Eng, Christine M. ; Yang, Yaping ; Palardy, Sylvain ; Belhumeur, Céline ; Rouleau, Guy A. ; Tommerup, Niels ; Immken, LaDonna ; Beauchamp, Miriam H. ; Patel, Gayle Simpson ; Majewski, Jacek ; Tarnopolsky, Mark A. ; Scheffzek, Klaus ; Hjalgrim, Helle ; Michaud, Jacques L. ; Di Cristo, Graziella

Human mutation, 2013-02, Vol.34 (2), p.385-394 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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3
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function
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Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

Rehman, Atteeq U. ; Najafi, Maryam ; Kambouris, Marios ; Al‐Gazali, Lihadh ; Makrythanasis, Periklis ; Rad, Abolfazl ; Maroofian, Reza ; Rajab, Anna ; Stark, Zornitza ; Hunter, Jill V. ; Bakey, Zeineb ; Tokita, Mari J. ; He, Weimin ; Vetrini, Francesco ; Petersen, Andrea ; Santoni, Federico A. ; Hamamy, Hanan ; Wu, Kaman ; Al‐Jasmi, Fatma ; Helmstädter, Martin ; Arnold, Sebastian J. ; Xia, Fan ; Richmond, Christopher ; Liu, Pengfei ; Karimiani, Ehsan Ghayoor ; Karami Madani, GholamReza ; Lunke, Sebastian ; El‐Shanti, Hatem ; Eng, Christine M. ; Antonarakis, Stylianos E. ; Hertecant, Jozef ; Walkiewicz, Magdalena ; Yang, Yaping ; Schmidts, Miriam

Human mutation, 2019-03, Vol.40 (3), p.267-280, Article humu.23694 [Periódico revisado por pares]

United States: Wiley Periodicals Inc

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4
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization
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Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization

Gaudio, Daniela del ; Yang, Yaping ; Boggs, Barbara A ; Schmitt, Eric S ; Lee, Jennifer A ; Sahoo, Trilochan ; Pham, Hoang T ; Wiszniewska, Joanna ; Craig Chinault, A ; Beaudet, Arthur L ; Eng, Christine M

Human mutation, 2008-09, Vol.29 (9), p.1100-1107 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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5
Cover Image, Volume 40, Issue 3
Cover Image, Volume 40, Issue 3
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Cover Image, Volume 40, Issue 3

Rehman, Atteeq U. ; Najafi, Maryam ; Kambouris, Marios ; Al‐Gazali, Lihadh ; Makrythanasis, Periklis ; Rad, Abolfazl ; Maroofian, Reza ; Rajab, Anna ; Stark, Zornitza ; Hunter, Jill V. ; Bakey, Zeineb ; Tokita, Mari J. ; He, Weimin ; Vetrini, Francesco ; Petersen, Andrea ; Santoni, Federico A. ; Hamamy, Hanan ; Wu, Kaman ; Al‐Jasmi, Fatma ; Helmstädter, Martin ; Arnold, Sebastian J. ; Xia, Fan ; Richmond, Christopher ; Liu, Pengfei ; Karimiani, Ehsan Ghayoor ; Karami Madani, GholamReza ; Lunke, Sebastian ; El‐Shanti, Hatem ; Eng, Christine M. ; Antonarakis, Stylianos E. ; Hertecant, Jozef ; Walkiewicz, Magdalena ; Yang, Yaping ; Schmidts, Miriam

Human mutation, 2019-03, Vol.40 (3), p.i-i [Periódico revisado por pares]

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6
Pathogenic mutations in Parkinson disease
Pathogenic mutations in Parkinson disease
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Pathogenic mutations in Parkinson disease

Tan, Eng-King ; Skipper, Lisa M.

Human Mutation, 2007-07, Vol.28 (7), p.641-653 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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7
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation
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ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation

Rivera‐Muñoz, Edgar A. ; Milko, Laura V. ; Harrison, Steven M. ; Azzariti, Danielle R. ; Kurtz, C. Lisa ; Lee, Kristy ; Mester, Jessica L. ; Weaver, Meredith A. ; Currey, Erin ; Craigen, William ; Eng, Charis ; Funke, Birgit ; Hegde, Madhuri ; Hershberger, Ray E. ; Mao, Rong ; Steiner, Robert D. ; Vincent, Lisa M. ; Martin, Christa L. ; Plon, Sharon E. ; Ramos, Erin ; Rehm, Heidi L. ; Watson, Michael ; Berg, Jonathan S.

Human mutation, 2018-11, Vol.39 (11), p.1614-1622 [Periódico revisado por pares]

United States: Wiley Periodicals Inc

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8
Epidemiological and ES cell‐based functional evaluation of BRCA2 variants identified in families with breast cancer
Epidemiological and ES cell‐based functional evaluation of BRCA2 variants identified in families with breast cancer
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Epidemiological and ES cell‐based functional evaluation of BRCA2 variants identified in families with breast cancer

Sullivan, Teresa ; Thirthagiri, Eswary ; Chong, Chan‐Eng ; Stauffer, Stacey ; Reid, Susan ; Southon, Eileen ; Hassan, Tiara ; Ravichandran, Aravind ; Wijaya, Eldarina ; Lim, Joanna ; Taib, Nur Aishah Mohd ; Fadzli, Farhana ; Yip, Cheng Har ; Hartman, Mikael ; Li, Jingmei ; Dam, Rob M. ; North, Susan L. ; Das, Ranabir ; Easton, Douglas F. ; Biswas, Kajal ; Teo, Soo‐Hwang ; Sharan, Shyam K.

Human mutation, 2021-02, Vol.42 (2), p.200-212 [Periódico revisado por pares]

United States: Wiley Periodicals Inc

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9
Multiple LRRK2 variants modulate risk of Parkinson disease: a chinese multicenter study
Multiple LRRK2 variants modulate risk of Parkinson disease: a chinese multicenter study
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Multiple LRRK2 variants modulate risk of Parkinson disease: a chinese multicenter study

Tan, Eng-King ; Peng, Rong ; Teo, Yik-Ying ; Tan, Louis C ; Angeles, Dario ; Ho, Patrick ; Chen, Meng-Ling ; Lin, Chin-Hsien ; Mao, Xue-Ye ; Chang, Xue-Li ; Prakash, Kumar M ; Liu, Jian-Jun ; Au, Wing-Lok ; Le, Wei-Dong ; Jankovic, Joseph ; Burgunder, Jean-Marc ; Zhao, Yi ; Wu, Ruey-Meei

Human mutation, 2010-05, Vol.31 (5), p.561-568 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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10
Detection of clinically relevant exonic copy-number changes by array CGH
Detection of clinically relevant exonic copy-number changes by array CGH
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Detection of clinically relevant exonic copy-number changes by array CGH

Boone, Philip M. ; Bacino, Carlos A. ; Shaw, Chad A. ; Eng, Patricia A. ; Hixson, Patricia M. ; Pursley, Amber N. ; Kang, Sung-Hae L. ; Yang, Yaping ; Wiszniewska, Joanna ; Nowakowska, Beata A. ; del Gaudio, Daniela ; Xia, Zhilian ; Simpson-Patel, Gayle ; Immken, LaDonna L. ; Gibson, James B. ; Tsai, Anne C.-H. ; Bowers, Jennifer A. ; Reimschisel, Tyler E. ; Schaaf, Christian P. ; Potocki, Lorraine ; Scaglia, Fernando ; Gambin, Tomasz ; Sykulski, Maciej ; Bartnik, Magdalena ; Derwinska, Katarzyna ; Wisniowiecka-Kowalnik, Barbara ; Lalani, Seema R. ; Probst, Frank J. ; Bi, Weimin ; Beaudet, Arthur L. ; Patel, Ankita ; Lupski, James R. ; Cheung, Sau Wai ; Stankiewicz, Pawel

Human mutation, 2010-12, Vol.31 (12), p.1326-1342 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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Deste Autor:

  1. Muresan, M
  2. Links, T
  3. Bendlova, B
  4. Wohllk, N
  5. Miehle, K

Neste Assunto:

  1. Humans
  2. Genetics & Heredity
  3. Life Sciences & Biomedicine
  4. Science & Technology
  5. Female

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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