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Pachydermoperiostosis: an update

Clinical genetics, 2005-12, Vol.68 (6), p.477-486

2005

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Use of three‐dimensional ultrasound imaging in the diagnosis of prenatal‐onset skeletal dysplasias

Ultrasound in obstetrics & gynecology, 2003-05, Vol.21 (5), p.467-472

2003

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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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Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

Nature genetics, 1999-03, Vol.21 (3), p.302-304

1999

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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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Abnormalities of the upper extremities on fetal magnetic resonance imaging

Ultrasound in obstetrics & gynecology, 2011-11, Vol.38 (5), p.559-567

2011

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Penile biometry on prenatal magnetic resonance imaging

Ultrasound in obstetrics & gynecology, 2012-03, Vol.39 (3), p.330-335

2012

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Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3

Nature genetics, 1995-03, Vol.9 (3), p.321-328

1995

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The skeletal dysplasias

Genetics in medicine, 2010-06, Vol.12 (6), p.327-341

2010

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Male sexual development in utero: testicular descent on prenatal magnetic resonance imaging

Ultrasound in obstetrics & gynecology, 2011-12, Vol.38 (6), p.688-694

2011

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Female external genitalia on fetal magnetic resonance imaging

Ultrasound in obstetrics & gynecology, 2011-12, Vol.38 (6), p.695-700

2011

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The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda

American journal of human genetics, 2001-06, Vol.68 (6), p.1386-1397

2001

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Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene

Nature genetics, 1996-01, Vol.12 (1), p.100-102

1996

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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

Nature genetics, 2004-04, Vol.36 (4), p.405-410

2004

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Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST) : Evidence for a phenotypic series involving three chondrodysplasias

American journal of human genetics, 1996-02, Vol.58 (2), p.255-262

1996

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Guidelines for the prenatal diagnosis of fetal skeletal dysplasias

Genetics in medicine, 2009-02, Vol.11 (2), p.127-133

2009

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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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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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Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases

Journal of medical genetics, 2003-03, Vol.40 (3), p.195-200

2003

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Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I

Human molecular genetics, 1995-11, Vol.4 (11), p.2175-2177

1995

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Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis

The Journal of clinical investigation, 1999-03, Vol.103 (5), p.731-738

1999

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Cervicomedullary junction compression in infants with achondroplasia: when to perform neurosurgical decompression

American journal of human genetics, 1995-04, Vol.56 (4), p.824-827

Rimoin, D L

1995

Volltextzugriff (PDF)

Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene

American journal of human genetics, 2003-02, Vol.72 (2), p.419-428

2003

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Central challenges facing the national clinical research enterprise

JAMA : the journal of the American Medical Association, 2003-03, Vol.289 (10), p.1278

2003

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The M694V mutation in Armenian-Americans: a 10-year retrospective study of MEFV mutation testing for familial Mediterranean fever at UCLA

Clinical genetics, 2013-07, Vol.84 (1), p.55-59

2013

Volltextzugriff (PDF)

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