Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. - Wikidata - wikimedia - TriplyDB

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

http://www.wikidata.org/entity/Q34054602

about

Joubert Syndrome and related disorders An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.Ciliopathies: the trafficking connection.Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.Modeling human disease in humans: the ciliopathies.A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China.Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes Joubert syndrome: congenital cerebellar ataxia with the molar tooth MKS1 regulates ciliary INPP5E levels in Joubert syndrome.Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity Open Sesame: How Transition Fibers and the Transition Zone Control Ciliary Composition.Primary cilia in neurodevelopmental disorders.TTBK2: a tau protein kinase beyond tau phosphorylation.Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.TMEM67 mutations found in a case of Joubert syndrome with renal hypodysplasia.Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype-phenotype relationship.Clinical utility gene card for: Meckel syndrome - update 2016.Clinical utility gene card for: Meckel syndrome.Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome.Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders.Missense variants in in a patient with Joubert syndrome

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Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

http://www.wikidata.org/entity/Q34054602

description

2010 nî lūn-bûn

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2010 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2010 թվականի մայիսին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Novel TMEM67 mutations and gen ...... meckelin-related ciliopathies.

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Novel TMEM67 mutations and gen ...... meckelin-related ciliopathies.

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Novel TMEM67 mutations and gen ...... meckelin-related ciliopathies.

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Novel TMEM67 mutations and gen ...... meckelin-related ciliopathies.

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Novel TMEM67 mutations and gen ...... meckelin-related ciliopathies.

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Novel TMEM67 mutations and gen ...... meckelin-related ciliopathies.

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Novel TMEM67 mutations and gen ...... meckelin-related ciliopathies.

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Novel TMEM67 mutations and gen ...... meckelin-related ciliopathies.

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Novel TMEM67 mutations and gen ...... meckelin-related ciliopathies.

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Barbara Gentilin

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Brigitte Leroy

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Chiara Pantaleoni

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Céline Gomes

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Dominika Swistun

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Elizabeth Flori

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Faustina Lalatta

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Francesco Brancati

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Gian Luigi Ardissino

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International JSRD Study Group

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A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

The primary cilium as a cellular signaling center: lessons from disease

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

The Meckel syndrome: clinicopathological findings in 67 patients

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations

The vertebrate primary cilium in development, homeostasis, and disease

Meckel syndrome

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10.1002/HUMU.21239

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5

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31

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Bruno Dallapiccola

Tania Attié-Bitach

Enza Maria Valente

Eugen Boltshauser

Soumaya Mougou-Zerelli

Lorena Travaglini

Annalisa Mazzotta

Joseph G Gleeson

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41970073

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