Molecular-pathogenetic classification of genetic disorders of the skeleton (Q34561450)

3 August 2017

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title

Molecular-pathogenetic classification of genetic disorders of the skeleton (English)

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3 August 2017

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3

Rimoin DL

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3 August 2017

Superti-Furga A

1

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PubMed ID

11891680

3 August 2017

Bonafé L

series ordinal

2

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3 August 2017

1 January 2001

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American Journal of Medical Genetics Part A

3 August 2017

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3 August 2017

106

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3 August 2017

4

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3 August 2017

282-293

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Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

3 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial [...]

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Brittle bones--fragile molecules: disorders of collagen gene structure and expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

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.10233

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Mutations of the TWIST gene in the Saethre-Chotzen syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

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.10233

Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Adenosine deaminase deficiency: molecular basis and recent developments

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

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.10233

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

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.10233

The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

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.10233

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.10233

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

The type XI collagenopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

A human chondrodysplasia due to a mutation in a TGF-beta superfamily member

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

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.10233

Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Craniosynostosis: genes and mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10233

21 January 2018

Identifiers

DOI

10.1002/AJMG.10233

1 reference

release_wiqmjqjv3fe2vbuwuxfwtpcwki

3 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/wiqmjqjv3fe2vbuwuxfwtpcwki

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

11891680

1 reference

PubMed ID

11891680