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Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Nature genetics, 2012-04, Vol.44 (4), p.376-378

2012

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Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

American journal of medical genetics. Part A, 2013-06, Vol.161A (6), p.1221-1237

2013

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Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients

American journal of medical genetics. Part A, 2011-08, Vol.155A (8), p.1949-1958

2011

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Renal complications in 6p duplication syndrome: Microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS)

American journal of medical genetics. Part A, 2015-03, Vol.167A (3), p.592-601

2015

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Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome

European journal of human genetics : EJHG, 2005-05, Vol.13 (5), p.528-540

2005

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Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki–Shaffer syndrome

American journal of medical genetics. Part A, 2005-03, Vol.133A (2), p.180-183

2005

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A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations

American journal of medical genetics. Part A, 2010-06, Vol.152A (6), p.1333-1346

2010

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Neurodevelopmental features in 2q23.1 microdeletion syndrome: Report of a new patient with intractable seizures and review of literature

American journal of medical genetics. Part A, 2012-04, Vol.158A (4), p.861-868

2012

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Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36

American journal of medical genetics. Part A, 2008-11, Vol.146A (22), p.2891-2897

2008

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Cold‐induced sweating syndrome with neonatal features of Crisponi syndrome: Longitudinal observation of a patient homozygous for a CRLF1 mutation

American journal of medical genetics. Part A, 2010-03, Vol.152A (3), p.764-769

2010

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Characterization of a New Syndrome That Associates Craniosynostosis, Delayed Fontanel Closure, Parietal Foramina, Imperforate Anus, and Skin Eruption: CDAGS

American journal of human genetics, 2005-07, Vol.77 (1), p.161-168

2005

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A stable acentric marker chromosome : possible existence of an intercalary ancient centromere at distal 8p

American journal of human genetics, 1994-12, Vol.55 (6), p.1202-1208

1994

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Clinical applications of two-color telomeric fluorescence in situ hybridization for prenatal diagnosis: Identification of chromosomal translocation in five families with recurrent miscarriages or a child with multiple congenital anomalies

Journal of human genetics, 1999-01, Vol.44 (2), p.85-90

1999

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4q33-qter deletion and absorptive hypercalciuria: Report of two unrelated girls

American journal of medical genetics, 1998-06, Vol.78 (1), p.52-54

1998

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Specification of small distal 6q deletions in two patients by gene dosage and in situ hybridization study of plasminogen and α-L-fucosidase 2

American journal of medical genetics, 1991-09, Vol.40 (3), p.348-353

1991

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De novo interstitial deletion of 4q[46,XX,del(4)(q27q28.2)] with intact blood group-MN locus, confining its locus to 4q28.2-4q31.1

Jinrui idengaku zasshi. Japanese journal of human genetics, 1991-06, Vol.36 (2), p.149-153

1991

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Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients

Renal complications in 6p duplication syndrome: Microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS)

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome

Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki–Shaffer syndrome

A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations

Neurodevelopmental features in 2q23.1 microdeletion syndrome: Report of a new patient with intractable seizures and review of literature

Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36

Cold‐induced sweating syndrome with neonatal features of Crisponi syndrome: Longitudinal observation of a patient homozygous for a CRLF1 mutation

Characterization of a New Syndrome That Associates Craniosynostosis, Delayed Fontanel Closure, Parietal Foramina, Imperforate Anus, and Skin Eruption: CDAGS

A stable acentric marker chromosome : possible existence of an intercalary ancient centromere at distal 8p

Clinical applications of two-color telomeric fluorescence in situ hybridization for prenatal diagnosis: Identification of chromosomal translocation in five families with recurrent miscarriages or a child with multiple congenital anomalies

4q33-qter deletion and absorptive hypercalciuria: Report of two unrelated girls

Specification of small distal 6q deletions in two patients by gene dosage and in situ hybridization study of plasminogen and α-L-fucosidase 2

De novo interstitial deletion of 4q[46,XX,del(4)(q27q28.2)] with intact blood group-MN locus, confining its locus to 4q28.2-4q31.1

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