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1
Ovarian Transplantation between Monozygotic Twins Discordant for Premature Ovarian Failure
Ovarian Transplantation between Monozygotic Twins Discordant for Premature Ovarian Failure
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Ovarian Transplantation between Monozygotic Twins Discordant for Premature Ovarian Failure

Silber, Sherman J ; Lenahan, Kathleen M ; Levine, David J ; Pineda, Jorge A ; Gorman, Kim S ; Friez, Michael J ; Crawford, Eric C ; Gosden, Roger G

The New England journal of medicine, 2005-07, Vol.353 (1), p.58-63 [Periódico revisado por pares]

Boston, MA: Massachusetts Medical Society

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2
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
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A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

Friez, Michael J ; Risheg, Hiba ; Graham, John M ; Clark, Robin D ; Rogers, R Curtis ; Opitz, John M ; Moeschler, John B ; Peiffer, Andreas P ; May, Melanie ; Joseph, Sumy M ; Jones, Julie R ; Stevenson, Roger E ; Schwartz, Charles E

Nature genetics, 2007-04, Vol.39 (4), p.451-453 [Periódico revisado por pares]

London: Nature Publishing Group

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3
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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4
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene
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The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

Schwartz, Charles E ; Tarpey, Patrick S ; Lubs, Herbert A ; Verloes, Alain ; May, Melanie M ; Risheg, Hiba ; Friez, Michael J ; Futreal, P Andrew ; Edkins, Sarah ; Teague, Jon ; Briault, Sylvain ; Skinner, Cindy ; Bauer-Carlin, Astrid ; Simensen, Richard J ; Joseph, Sumy M ; Jones, Julie R ; Gecz, Josef ; Stratton, Michael R ; Raymond, F Lucy ; Stevenson, Roger E

Journal of medical genetics, 2007-07, Vol.44 (7), p.472-477 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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5
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
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A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

Minassian, Berge A ; Mnatzakanian, Gevork N ; Lohi, Hannes ; Munteanu, Iulia ; Alfred, Simon E ; Yamada, Takahiro ; MacLeod, Patrick J M ; Jones, Julie R ; Scherer, Stephen W ; Schanen, N Carolyn ; Friez, Michael J ; Vincent, John B

Nature genetics, 2004-04, Vol.36 (4), p.339-341 [Periódico revisado por pares]

London: Nature Publishing Group

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6
Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X‐linked intellectual disability associated with behavioral problems and mild dysmorphism
Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X‐linked intellectual disability associated with behavioral problems and mild dysmorphism
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Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X‐linked intellectual disability associated with behavioral problems and mild dysmorphism

Franek, Karl J. ; Butler, Julia ; Johnson, John ; Simensen, Richard ; Friez, Michael J. ; Bartel, Frank ; Moss, Tonya ; DuPont, Barbara ; Berry, Katherine ; Bauman, Margaret ; Skinner, Cindy ; Stevenson, Roger E. ; Schwartz, Charles E.

American journal of medical genetics. Part A, 2011-05, Vol.155 (5), p.1109-1114 [Periódico revisado por pares]

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

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7
First case of deletion of the faciogenital dysplasia 1 ( FGD1 ) gene in a patient with Aarskog–Scott syndrome
First case of deletion of the faciogenital dysplasia 1 ( FGD1 ) gene in a patient with Aarskog–Scott syndrome
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First case of deletion of the faciogenital dysplasia 1 ( FGD1 ) gene in a patient with Aarskog–Scott syndrome

Bedoyan, Jirair K ; Friez, Michael J ; DuPont, Barbara ; Ahmad, Ayesha

European journal of medical genetics, 2009-07, Vol.52 (4), p.262-264 [Periódico revisado por pares]

Amsterdam: Elsevier Masson SAS

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8
Hypothesis: Dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders
Hypothesis: Dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders
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Hypothesis: Dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders

Jones, Julie R. ; Skinner, Cindy ; Friez, Michael J. ; Schwartz, Charles E. ; Stevenson, Roger E.

American journal of medical genetics. Part A, 2008-09, Vol.146A (17), p.2213-2220 [Periódico revisado por pares]

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

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9
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands
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Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands

Cathey, S S ; Leroy, J G ; Wood, T ; Eaves, K ; Simensen, R J ; Kudo, M ; Stevenson, R E ; Friez, M J

Journal of medical genetics, 2010-01, Vol.47 (1), p.38-48 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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10
Partial ATRX gene duplication causes ATR-X syndrome
Partial ATRX gene duplication causes ATR-X syndrome
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Partial ATRX gene duplication causes ATR-X syndrome

Cohn, Dianne M. ; Pagon, Roberta A. ; Hudgins, Louanne ; Schwartz, Charles E. ; Stevenson, Roger E. ; Friez, Michael J.

American journal of medical genetics. Part A, 2009-10, Vol.149A (10), p.2317-2320 [Periódico revisado por pares]

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

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