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Syndrome neurofibromatose-Noonan : 4 observations

Annales de dermatologie et de vénéréologie, 1993, Vol.120 (11), p.763-765

1993

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Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

European journal of human genetics : EJHG, 2010-08, Vol.18 (8), p.872-880

2010

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Defective chondrocyte proliferation and differentiation in osteochondromas of MHE patients

Bone (New York, N.Y.), 2006-07, Vol.39 (1), p.17-26

2006

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Mutations of the TWIST gene in the Saethre-Chotzen syndrome

Nature genetics, 1997, Vol.15 (1), p.42-46

1997

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Prenatal Diagnosis of Sporadic Apert Syndrome: A Sequential Diagnostic Approach Combining Three-Dimensional Computed Tomography and Molecular Biology

Fetal diagnosis and therapy, 2001-01, Vol.16 (1), p.10-12

2001

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Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder

American journal of medical genetics. Part A, 2006-03, Vol.140A (6), p.541-550

2006

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Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

Nature (London), 1994-09, Vol.371 (6494), p.252-254

1994

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Fibrodysplasia Ossificans Progressiva, a Heritable Disorder of Severe Heterotopic Ossification, Maps to Human Chromosome 4q27-31

American journal of human genetics, 2000-01, Vol.66 (1), p.128-135

2000

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SHORT syndrome: a case with high hyperopia and astigmatism

Ophthalmic genetics, 2000-12, Vol.21 (4), p.235-238

2000

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Clustering of Mutations Responsible for Branchio-Oto-Renal (BOR) Syndrome in the Eyes Absent Homologous Region (eyaHR) of EYA1

Human molecular genetics, 1997-12, Vol.6 (13), p.2247-2255

1997

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SHORT syndrome: a case with high hyperopia and astigmatism

Ophthalmic genetics, 2000-01, Vol.21 (4), p.235-238

2000

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Prenatal diagnosis of cleft lip at 11 menstrual weeks using embryoscopy in the Van der Woude syndrome

Prenatal diagnosis, 1995-04, Vol.15 (4), p.378-381

1995

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X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus

Nature genetics, 1994-03, Vol.6 (3), p.257-262

1994

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Congenital lumbosacral lipomas

Child's nervous system, 1997-06, Vol.13 (6), p.298-334

1997

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FGFR2 mutations in Pfeiffer syndrome

Nature genetics, 1995, Vol.9 (2), p.108-108

1995

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Missense FGFR3 Mutations Create Cysteine Residues in Thanatophoric Dwarfism Type I (TD1)

Human molecular genetics, 1996-04, Vol.5 (4), p.509-512

1996

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The neurofibromatosis-Noonan syndrome: 4 cases

Annales de dermatologie et de vénéréologie, 1993, Vol.120 (11), p.763-765

1993

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Connective tissue nevi: An entity revisited

Journal of the American Academy of Dermatology, 2012-08, Vol.67 (2), p.233-239

2012

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CHARGE syndrome: Report of 47 cases and review

American journal of medical genetics, 1998-04, Vol.76 (5), p.402-409

1998

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Toriello-Carey syndrome: Delineation and review

American journal of medical genetics. Part A, 2003-11, Vol.123A (1), p.84-90

2003

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A gene for hereditary multiple exostoses maps to chromosome 19p

Human molecular genetics, 1994-05, Vol.3 (5), p.717-722

1994

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Stop codon FGFR3 mutations in thanatophoric dwarfism type 1

Nature genetics, 1995-05, Vol.10 (1), p.11-12

1995

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Desbuquois syndrome

European journal of pediatrics, 1991-09, Vol.150 (11), p.793-796

1991

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Clinical and genetic heterogeneity of hypochondroplasia

Journal of medical genetics, 1996-09, Vol.33 (9), p.749-752

1996

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CHARGE syndrome: Report of 47 cases and review

American journal of medical genetics, 1998-04, Vol.76 (5), p.402-409

1998

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Syndrome neurofibromatose-Noonan : 4 observations

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

Defective chondrocyte proliferation and differentiation in osteochondromas of MHE patients

Mutations of the TWIST gene in the Saethre-Chotzen syndrome

Prenatal Diagnosis of Sporadic Apert Syndrome: A Sequential Diagnostic Approach Combining Three-Dimensional Computed Tomography and Molecular Biology

Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

Fibrodysplasia Ossificans Progressiva, a Heritable Disorder of Severe Heterotopic Ossification, Maps to Human Chromosome 4q27-31

SHORT syndrome: a case with high hyperopia and astigmatism

Clustering of Mutations Responsible for Branchio-Oto-Renal (BOR) Syndrome in the Eyes Absent Homologous Region (eyaHR) of EYA1

SHORT syndrome: a case with high hyperopia and astigmatism

Prenatal diagnosis of cleft lip at 11 menstrual weeks using embryoscopy in the Van der Woude syndrome

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus

Congenital lumbosacral lipomas

FGFR2 mutations in Pfeiffer syndrome

Missense FGFR3 Mutations Create Cysteine Residues in Thanatophoric Dwarfism Type I (TD1)

The neurofibromatosis-Noonan syndrome: 4 cases

Connective tissue nevi: An entity revisited

CHARGE syndrome: Report of 47 cases and review

Toriello-Carey syndrome: Delineation and review

A gene for hereditary multiple exostoses maps to chromosome 19p

Stop codon FGFR3 mutations in thanatophoric dwarfism type 1

Desbuquois syndrome

Clinical and genetic heterogeneity of hypochondroplasia

CHARGE syndrome: Report of 47 cases and review

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