The Meckel syndrome: clinicopathological findings in 67 patients
about
Joubert Syndrome and related disordersIdentification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzleThe Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formationMutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndromeCEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disordersThe Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndromeLower urinary tract development and diseaseThe nonmotile ciliopathies.Evidence for a "Pathogenic Triumvirate" in Congenital Hepatic Fibrosis in Autosomal Recessive Polycystic Kidney DiseaseMeckel syndrome and neural tube defects in Kuwait.Meckel syndrome: what are the minimum diagnostic criteria?Pallister-Hall syndrome.Associated malformations in the family of a patient with Meckel syndrome: heterozygous expression?Genetic heterogeneity of Meckel syndrome.Meckel syndromeAntenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation.MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvementHigh-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23.Prenatal diagnosis of recurrent Meckel syndrome.TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.Novel variant syndrome associated with congenital hepatic fibrosis.Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in EuropeCombining fetal sonography with genetic and allele pathogenicity studies to secure a neonatal diagnosis of Bardet-Biedl syndrome.Meckel-Gruber syndrome: A rare and lethal anomalyPhenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disordersMutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypesMutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?Immunohistochemical study of the phenotypic change of the mesenchymal cells during portal tract maturation in normal and fibrous (ductal plate malformation) fetal liver.Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.Goldston syndrome in a fetus: case report and literature review.Primary cilia in neurodevelopmental disorders.Cilia and coordination of signaling networks during heart development.Unmasking the ciliopathies: craniofacial defects and the primary cilium.A role for primary cilia in aortic valve development and disease.TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome.
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P2860
The Meckel syndrome: clinicopathological findings in 67 patients
description
1984 nî lūn-bûn
@nan
1984 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1984 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1984年の論文
@ja
1984年論文
@yue
1984年論文
@zh-hant
1984年論文
@zh-hk
1984年論文
@zh-mo
1984年論文
@zh-tw
1984年论文
@wuu
name
The Meckel syndrome: clinicopathological findings in 67 patients
@ast
The Meckel syndrome: clinicopathological findings in 67 patients
@en
The Meckel syndrome: clinicopathological findings in 67 patients
@nl
type
label
The Meckel syndrome: clinicopathological findings in 67 patients
@ast
The Meckel syndrome: clinicopathological findings in 67 patients
@en
The Meckel syndrome: clinicopathological findings in 67 patients
@nl
prefLabel
The Meckel syndrome: clinicopathological findings in 67 patients
@ast
The Meckel syndrome: clinicopathological findings in 67 patients
@en
The Meckel syndrome: clinicopathological findings in 67 patients
@nl
P3181
P356
P1476
The Meckel syndrome: clinicopathological findings in 67 patients
@en
P2093
P304
P3181
P356
10.1002/AJMG.1320180414
P407
P577
1984-08-01T00:00:00Z