Nosology and classification of genetic skeletal disorders: 2010 revision.
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The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasiaExome sequencing identifies INPPL1 mutations as a cause of opsismodysplasiaFurther delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesisPseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contributionWhole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic typeThe aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseasesThe role of perlecan and endorepellin in the control of tumor angiogenesis and endothelial cell autophagyMechanisms and models of endoplasmic reticulum stress in chondrodysplasiaOsteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessmentLINE-1 Mediated Insertion into Poc1a (Protein of Centriole 1 A) Causes Growth Insufficiency and Male Infertility in MiceA novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VIIEndoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and XSkeletal dysplasiasCortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's DiseaseDYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defectsCole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HBAdvances in Skeletal Dysplasia GeneticsHomozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type GrebeAxial Spondylometaphyseal Dysplasia Is Caused by C21orf2 MutationsA hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasiaAntioxidant and anti-inflammatory agents mitigate pathology in a mouse model of pseudoachondroplasiaShort-rib polydactyly and Jeune syndromes are caused by mutations in WDR60A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux typePAPSS2 deficiency causes androgen excess via impaired DHEA sulfation--in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations.Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.Advances in evaluating the fetal skeletonIdentification of key genes associated with Schmid-type metaphyseal chondrodysplasia based on microarray data.A novel p. Gly630Ser mutation of COL2A1 in a Chinese family with presentations of Legg-Calvé-Perthes disease or avascular necrosis of the femoral head.Medical diagnosis as a linguistic gameShort stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutationsThe importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family).Recent advances in osteogenesis imperfecta.Recent research on the growth plate: Recent insights into the regulation of the growth plateGenetic evaluation of short stature.Molecular pathogenesis of spondylocheirodysplastic Ehlers-Danlos syndrome caused by mutant ZIP13 proteins.Loss of jab1 in osteochondral progenitor cells severely impairs embryonic limb development in mice.TRPV4-associated skeletal dysplasias.The revolution in human monogenic disease mapping.Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndromeClinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations.
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P2860
Nosology and classification of genetic skeletal disorders: 2010 revision.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh
2011年學術文章
@zh-hant
name
Nosology and classification of genetic skeletal disorders: 2010 revision.
@en
Nosology and classification of genetic skeletal disorders: 2010 revision.
@nl
type
label
Nosology and classification of genetic skeletal disorders: 2010 revision.
@en
Nosology and classification of genetic skeletal disorders: 2010 revision.
@nl
prefLabel
Nosology and classification of genetic skeletal disorders: 2010 revision.
@en
Nosology and classification of genetic skeletal disorders: 2010 revision.
@nl
P2093
P2860
P50
P356
P1476
Nosology and classification of genetic skeletal disorders: 2010 revision.
@en
P2093
Andrea Superti-Furga
Bernhard Zabel
Christine Hall
David L Rimoin
David Sillence
Deborah Krakow
Gen Nishimura
Juergen Spranger
Martine LeMerrer
Matthew L Warman
P2860
P304
P356
10.1002/AJMG.A.33909
P407
P5008
P577
2011-03-15T00:00:00Z
2011-05-01T00:00:00Z