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PIK3R1 mutations in SHORT syndrome

Clinical genetics, 2014-09, Vol.86 (3), p.292-294

2014

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Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34

Clinical genetics, 2014-05, Vol.85 (5), p.498-499

2014

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Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome

Clinical genetics, 2010-06, Vol.77 (6), p.541-551

2010

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Novel SLC9A6 mutations in two families with Christianson syndrome

Clinical genetics, 2013-06, Vol.83 (6), p.596-597

2013

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Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome)

Clinical genetics, 2013-01, Vol.83 (1), p.92-95

2013

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Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients

British journal of dermatology (1951), 2008-09, Vol.159 (3), p.748-751

2008

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Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

Human mutation, 2008-10, Vol.29 (10), p.1237-1246

2008

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Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences

American journal of medical genetics. Part A, 2006-03, Vol.140A (5), p.496-502

2006

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Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris

Clinical genetics, 2006-02, Vol.69 (2), p.189-193

2006

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Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion

American journal of medical genetics. Part A, 2006-05, Vol.140A (10), p.1108-1110

2006

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Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature, primary amenorrhea, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype

American journal of medical genetics, 2002-09, Vol.112 (1), p.51-55

2002

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Musculoskeletal Disease in MDA5‐Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy

Arthritis & rheumatology (Hoboken, N.J.), 2017-10, Vol.69 (10), p.2081-2091

2017

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The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

Epilepsia (Copenhagen), 2016-11, Vol.57 (11), p.1858-1869

2016

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Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

Human mutation, 2016-09, Vol.37 (9), p.847-864

2016

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Mutations of the aminoacyl‐tRNA‐synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability

Human mutation, 2017-06, Vol.38 (6), p.621-636

2017

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De novo partial deletion in GRID2 presenting with complicated spastic paraplegia

Muscle & nerve, 2014-02, Vol.49 (2), p.289-292

2014

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A novel nonsense mutation in TUSC3 is responsible for non‐syndromic autosomal recessive mental retardation in a consanguineous Iranian family

American journal of medical genetics. Part A, 2011-08, Vol.155 (8), p.1976-1980

2011

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Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.94-102

2016

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Skeletal abnormalities are common features in Aymé‐Gripp syndrome

Clinical genetics, 2020-02, Vol.97 (2), p.362-369

2020

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Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability

American journal of medical genetics. Part A, 2016-09, Vol.170A (9), p.2394-2399

2016

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Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies

American journal of medical genetics. Part A, 2015-10, Vol.167A (10), p.2406-2410

2015

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balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation

Human mutation, 2009, Vol.30 (1), p.61-68

2009

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Skewed X‐inactivation in a family with DLG3‐associated X‐linked intellectual disability

American journal of medical genetics. Part A, 2017-09, Vol.173 (9), p.2545-2550

2017

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Chromosome deletions in 13q33-34: Report of four patients and review of the literature

American journal of medical genetics. Part A, 2008-02, Vol.146A (3), p.337-342

2008

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Xq22.3–q23 deletion including ACSL4 in a patient with intellectual disability

American journal of medical genetics. Part A, 2013-04, Vol.161 (4), p.860-864

2013

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PIK3R1 mutations in SHORT syndrome

Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34

Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome

Novel SLC9A6 mutations in two families with Christianson syndrome

Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome)

Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences

Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris

Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion

Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature, primary amenorrhea, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype

Musculoskeletal Disease in MDA5‐Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy

The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

Mutations of the aminoacyl‐tRNA‐synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability

De novo partial deletion in GRID2 presenting with complicated spastic paraplegia

A novel nonsense mutation in TUSC3 is responsible for non‐syndromic autosomal recessive mental retardation in a consanguineous Iranian family

Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?

Skeletal abnormalities are common features in Aymé‐Gripp syndrome

Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability

Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies

balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation

Skewed X‐inactivation in a family with DLG3‐associated X‐linked intellectual disability

Chromosome deletions in 13q33-34: Report of four patients and review of the literature

Xq22.3–q23 deletion including ACSL4 in a patient with intellectual disability

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