International nosology and classification of constitutional disorders of bone (2001). (Q52113251)

22 April 2018

title

International nosology and classification of constitutional disorders of bone (2001). (English)

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22 April 2018

author

Judith Goslin Hall

series ordinal

1

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22 April 2018

publication date

1 November 2002

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22 April 2018

American Journal of Medical Genetics Part A

published in

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22 April 2018

volume

113

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22 April 2018

page(s)

65-77

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22 April 2018

issue

1

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22 April 2018

Mseleni and Handigodu familial osteoarthropathies: syndromic identity?

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Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).

21 January 2018

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A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations

21 January 2018

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Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint maps to an 11-cM region on chromosome 4q35.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10828

Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

New mesomelic dysplasia with absent fibulae and triangular tibiae.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

The mutational spectrum of human malignant autosomal recessive osteopetrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

Association of infantile neuroaxonal dystrophy and osteopetrosis: a rare autosomal recessive disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

Mapping of autosomal dominant osteopetrosis type II (Albers-Schönberg disease) to chromosome 16p13.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

Linking osteopetrosis and pycnodysostosis: regulation of cathepsin K expression by the microphthalmia transcription factor family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

Kenny-Caffey syndrome: an Arab variant?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

Genotypic/phenotypic heterogeneity of Kenny-Caffey syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

Diaphyseal medullary stenosis with malignant fibrous histiocytoma: a hereditary bone dysplasia/cancer syndrome maps to 9p21-22

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

Mutation analysis of LMX1B gene in nail-patella syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

Meier-Gorlin syndrome: report of eight additional cases and review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10828

21 January 2018

Identifiers

DOI

10.1002/AJMG.10828

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22 April 2018

PubMed ID

12400068

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22 April 2018