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Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28
Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28
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Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28

Friez, Michael J ; Jones, Julie R ; Clarkson, Katie ; Lubs, Herbert ; Abuelo, Dianne ; Bier, Jo-Ann Blaymore ; Pai, Shashidhar ; Simensen, Richard ; Williams, Charles ; Giampietro, Philip F ; Schwartz, Charles E ; Stevenson, Roger E

Pediatrics (Evanston), 2006-12, Vol.118 (6), p.e1687-e1695 [Periódico revisado por pares]

United States: Am Acad Pediatrics

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12
Attention: Direct-To-Consumer patrons: Proceed with caution
Attention: Direct-To-Consumer patrons: Proceed with caution
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Attention: Direct-To-Consumer patrons: Proceed with caution

Friez, Michael J.

Genetics in medicine, 2018-12, Vol.20 (12), p.1508-1509 [Periódico revisado por pares]

United States: Elsevier Inc

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13
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
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Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

Bauters, Marijke ; Van Esch, Hilde ; Friez, Michael J ; Boespflug-Tanguy, Odile ; Zenker, Martin ; Vianna-Morgante, Angela M ; Rosenberg, Carla ; Ignatius, Jaakko ; Raynaud, Martine ; Hollanders, Karen ; Govaerts, Karen ; Vandenreijt, Kris ; Niel, Florence ; Blanc, Pierre ; Stevenson, Roger E ; Fryns, Jean-Pierre ; Marynen, Peter ; Schwartz, Charles E ; Froyen, Guy

Genome Research, 2008-06, Vol.18 (6), p.847-858 [Periódico revisado por pares]

United States: Cold Spring Harbor Laboratory Press

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14
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study
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HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

Friez, Michael J ; Brooks, Susan Sklower ; Stevenson, Roger E ; Field, Michael ; Basehore, Monica J ; Adès, Lesley C ; Sebold, Courtney ; McGee, Stephen ; Saxon, Samantha ; Skinner, Cindy ; Craig, Maria E ; Murray, Lucy ; Simensen, Richard J ; Yap, Ying Yzu ; Shaw, Marie A ; Gardner, Alison ; Corbett, Mark ; Kumar, Raman ; Bosshard, Matthias ; van Loon, Barbara ; Tarpey, Patrick S ; Abidi, Fatima ; Gecz, Jozef ; Schwartz, Charles E

BMJ open, 2016-04, Vol.6 (4), p.e009537-e009537 [Periódico revisado por pares]

England: British Medical Journal Publishing Group

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15
Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum
Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum
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Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum

Langley, Katherine G. ; Brown, Jordan ; Gerber, Richard J. ; Fox, Janelle ; Friez, Michael J. ; Lyons, Michael ; Schrier Vergano, Samantha A.

American journal of medical genetics. Part A, 2015-12, Vol.167A (12), p.3180-3185 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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16
Natural history of Christianson syndrome
Natural history of Christianson syndrome
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Natural history of Christianson syndrome

Schroer, Richard J. ; Holden, Kenton R. ; Tarpey, Patrick S. ; Matheus, Maria Giselle ; Griesemer, David A. ; Friez, Michael J. ; Fan, Jane Zheng ; Simensen, Richard J. ; Strømme, Petter ; Stevenson, Roger E. ; Stratton, Michael R. ; Schwartz, Charles E.

American journal of medical genetics. Part A, 2010-11, Vol.152A (11), p.2775-2783 [Periódico revisado por pares]

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

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17
Analysis of X‐inactivation status in a Rett syndrome natural history study cohort
Analysis of X‐inactivation status in a Rett syndrome natural history study cohort
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Analysis of X‐inactivation status in a Rett syndrome natural history study cohort

Fang, Xiaolan ; Butler, Kameryn M. ; Abidi, Fatima ; Gass, Jennifer ; Beisang, Arthur ; Feyma, Timothy ; Ryther, Robin C. ; Standridge, Shannon ; Heydemann, Peter ; Jones, Mary ; Haas, Richard ; Lieberman, David N ; Marsh, Eric D. ; Benke, Tim A. ; Skinner, Steve ; Neul, Jeffrey L. ; Percy, Alan K. ; Friez, Michael J. ; Caylor, Raymond C.

Molecular genetics & genomic medicine, 2022-05, Vol.10 (5), p.e1917-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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18
X‐Linked intellectual disability update 2022
X‐Linked intellectual disability update 2022
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X‐Linked intellectual disability update 2022

Schwartz, Charles E. ; Louie, Raymond J. ; Toutain, Annick ; Skinner, Cindy ; Friez, Michael J. ; Stevenson, Roger E.

American journal of medical genetics. Part A, 2023-01, Vol.191 (1), p.144-159 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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19
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations
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The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations

Velho, Renata Voltolini ; Harms, Frederike L. ; Danyukova, Tatyana ; Ludwig, Nataniel F. ; Friez, Michael J. ; Cathey, Sara S. ; Filocamo, Mirella ; Tappino, Barbara ; Güneş, Nilay ; Tüysüz, Beyhan ; Tylee, Karen L. ; Brammeier, Kathryn L. ; Heptinstall, Lesley ; Oussoren, Esmee ; Ploeg, Ans T. ; Petersen, Christine ; Alves, Sandra ; Saavedra, Gloria Durán ; Schwartz, Ida V. ; Muschol, Nicole ; Kutsche, Kerstin ; Pohl, Sandra

Human mutation, 2019-07, Vol.40 (7), p.842-864, Article humu.23748 [Periódico revisado por pares]

United States: Hindawi Limited

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20
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2
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Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2

Sajan, Samin A. ; Jhangiani, Shalini N. ; Muzny, Donna M. ; Gibbs, Richard A. ; Lupski, James R. ; Glaze, Daniel G. ; Kaufmann, Walter E. ; Skinner, Steven A. ; Annese, Fran ; Friez, Michael J. ; Lane, Jane ; Percy, Alan K. ; Neul, Jeffrey L.

Genetics in medicine, 2017-01, Vol.19 (1), p.13-19 [Periódico revisado por pares]

United States: Elsevier Inc

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