Mutations in NOTCH2 in families with Hajdu-Cheney syndrome - Wikidata - wikimedia - TriplyDB

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

http://www.wikidata.org/entity/Q28241047

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Human genome sequencing in health and disease Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies miRNA-34c regulates Notch signaling during bone development Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome.RBP-Jκ-dependent Notch signaling is required for murine articular cartilage and joint maintenance.FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population Hajdu-Cheney syndrome: a review.Notch signaling in skeletal health and disease.Joubert Syndrome in French Canadians and Identification of Mutations in CEP104 Hajdu Cheney Mouse Mutants Exhibit Osteopenia, Increased Osteoclastogenesis, and Bone Resorption.Notch gain of function inhibits chondrocyte differentiation via Rbpj-dependent suppression of Sox9.NOTCH signaling in skeletal progenitors is critical for fracture repair.Notch Signaling and the Skeleton.Mutations in PIK3R1 cause SHORT syndrome HES factors regulate specific aspects of chondrogenesis and chondrocyte hypertrophy during cartilage development Osseointegration of Dental Implants in a Patient with Hajdu-cheney Syndrome Notch signaling in skeletal stem cells.Notch and disease: a growing field.Notch signaling and bone remodeling.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Hajdu-Cheney Syndrome, a Disease Associated with NOTCH2 Mutations.NOTCH2 mutations in Alagille syndrome.An unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report.Signaling by NOTCH2 Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome.Notch Signaling in Development, Tissue Homeostasis, and Disease.The Hajdu Cheney Mutation Is a Determinant of B-Cell Allocation of the Splenic Marginal Zone.Sustained Notch2 signaling in osteoblasts, but not in osteoclasts, is linked to osteopenia in a mouse model of Hajdu-Cheney syndrome.Clinical and experimental aspects of notch receptor signaling: Hajdu-Cheney syndrome and related disorders.Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.An Antibody to Notch2 Reverses the Osteopenic Phenotype of Hajdu-Cheney Mutant Male Mice.Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation.Induction of the Hajdu-Cheney Syndrome Mutation in CD19 B Cells in Mice Alters B-Cell Allocation but Not Skeletal Homeostasis.Intraoperative delivery of the Notch ligand Jagged-1 regenerates appendicular and craniofacial bone defects.Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome

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Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

http://www.wikidata.org/entity/Q28241047

description

2011 nî lūn-bûn

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2011 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2011 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

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Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

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Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

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Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

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Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

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Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

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Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

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Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

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Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

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Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

@en

P2093

Aurore Caqueret

http://www.w3.org/2001/XMLSchema#string

Fergus E McKiernan

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Ivo Marik

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Jacek Majewski

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Jacques L Michaud

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Janet Marcadier

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Louis-Georges Ste-Marie

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Lysanne Patry

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Mark E Samuels

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P2860

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

Exome sequencing identifies the cause of a mendelian disorder

miRBase: tools for microRNA genomics

Fast and accurate short read alignment with Burrows-Wheeler transform

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

The Sequence Alignment/Map format and SAMtools

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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1114-7

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scholarly article

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10.1002/HUMU.21546

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10

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32

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Jean-Pierre Fryns

Jeremy Schwartzentruber

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2011-10-01T00:00:00Z

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21681853

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