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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Journal of medical genetics, 2006-08, Vol.43 (8), p.625-633

2006

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The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

Journal of medical genetics, 2006-05, Vol.43 (5), p.406-413

2006

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Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

Nature genetics, 1995-07, Vol.10 (3), p.330-336

1995

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Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis

Clinical genetics, 2011-10, Vol.80 (4), p.383-388

2011

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Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

Journal of medical genetics, 2004-01, Vol.41 (1), p.52-59

2004

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Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

Journal of medical genetics, 2007-04, Vol.44 (4), p.264-268

2007

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Disfluency: it is not always stuttering

Clinical genetics, 2014-03, Vol.85 (3), p.298-299

2014

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Whole body MR imaging in neurofibromatosis type 1

European journal of radiology, 2009-02, Vol.69 (2), p.236-242

2009

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Long-term impact of tongue reduction on speech intelligibility, articulation and oromyofunctional behaviour in a child with Beckwith–Wiedemann syndrome

International journal of pediatric otorhinolaryngology, 2010-03, Vol.74 (3), p.309-318

2010

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Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia

Nature genetics, 2001-08, Vol.28 (4), p.393-396

2001

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Hyperekplexia associated with compound heterozygote mutations in the β-subunit of the human inhibitory glycine receptor (GLRB)

Human molecular genetics, 2002-04, Vol.11 (7), p.853-860

2002

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PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience

Journal of medical genetics, 2004-11, Vol.41 (11), p.e117-e117

2004

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Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum

American journal of human genetics, 1998-02, Vol.62 (2), p.311-319

1998

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Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

Journal of medical genetics, 2000-04, Vol.37 (4), p.263-271

2000

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Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips

Journal of medical genetics, 2003-03, Vol.40 (3), p.201-207

2003

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Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance?

Journal of oral pathology & medicine, 2005-08, Vol.34 (7), p.444-446

2005

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Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

The New England journal of medicine, 2008-10, Vol.359 (16), p.1685-1699

2008

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The mutation spectrum in Holt-Oram syndrome

Journal of medical genetics, 2000-10, Vol.37 (10), p.785-787

2000

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Unilateral Semicircular Canal Aplasia in Goldenhar's Syndrome

American journal of neuroradiology : AJNR, 2000-08, Vol.21 (7), p.1334-1336

2000

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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Journal of medical genetics, 2009-08, Vol.46 (8), p.511-523

2009

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Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: Description of 12 patients

American journal of medical genetics. Part A, 2004-03, Vol.125A (3), p.278-284

2004

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Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC)

Genetic counseling, 2008-01, Vol.19 (4), p.433

2008

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High incidence of the R276X SALL1 mutation in sporadic but not familial Townes–Brocks syndrome and report of the first familial case

Journal of medical genetics, 2003-11, Vol.40 (11), p.e127-127

2003

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Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

Human molecular genetics, 2002-09, Vol.11 (18), p.2113-2118

2002

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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis

Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

Disfluency: it is not always stuttering

Whole body MR imaging in neurofibromatosis type 1

Long-term impact of tongue reduction on speech intelligibility, articulation and oromyofunctional behaviour in a child with Beckwith–Wiedemann syndrome

Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia

Hyperekplexia associated with compound heterozygote mutations in the β-subunit of the human inhibitory glycine receptor (GLRB)

PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience

Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance?

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

The mutation spectrum in Holt-Oram syndrome

Unilateral Semicircular Canal Aplasia in Goldenhar's Syndrome

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: Description of 12 patients

Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC)

High incidence of the R276X SALL1 mutation in sporadic but not familial Townes–Brocks syndrome and report of the first familial case

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

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