A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review - Wikidata - awgldk - TriplyDB

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

http://www.wikidata.org/entity/Q33458936

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22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and Review Neural crest cell signaling pathways critical to cranial bone development and pathology.DiGeorge Syndrome: a not so rare disease.Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication Integration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trial.Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspring Mapping the deletion endpoints in individuals with 22q11.2 deletion syndrome by droplet digital PCR Congenital anomalies and rhabdoid tumor associated with 22q11 germline deletion and somatic inactivation of the SMARCB1 tumor suppressor.A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.22q11 Gene dosage establishes an adaptive range for sonic hedgehog and retinoic acid signaling during early development.DGCR6 at the proximal part of the DiGeorge critical region is involved in conotruncal heart defects.Integrated small copy number variations and epigenome maps of disorders of sex development.Investigation of TBX1 gene deletion in Iranian children with 22q11.2 deletion syndrome: correlation with conotruncal heart defects.The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology.Cognitive deficit, learning difficulties, severe behavioral abnormalities and healed cleft lip in a patient with a 1.2-mb distal microduplication at 22q11.2.A case report of 22q11 deletion syndrome confirmed by array-CGH method.Variation in prevalence of chromosome 22q11 deletion in subtypes of conotruncal defect in 254 children.Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases.Applying T-cell receptor excision circles and immunoglobulin κ-deleting recombination excision circles to patients with primary immunodeficiency diseases.Cleft palate in a patient with the nested 22q11.2 LCR C to D deletion.Chromosome 22q11.2 duplication is rare in a population-based cohort of Danish children with cardiovascular malformations.SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis.Identification of copy number variants on human chromosome 22 in patients with a variety of clinical findings.High-resolution analysis of copy number variants in adults with simple-to-moderate congenital heart disease.Phenotypic variability of distal 22q11.2 copy number abnormalities

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A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

http://www.wikidata.org/entity/Q33458936

description

2009 nî lūn-bûn

@nan

2009 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի հունիսին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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name

A deletion and a duplication i ...... inical implications and review

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A deletion and a duplication i ...... inical implications and review

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type

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A deletion and a duplication i ...... inical implications and review

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A deletion and a duplication i ...... inical implications and review

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A deletion and a duplication i ...... inical implications and review

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A deletion and a duplication i ...... inical implications and review

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1471-2350-10-48

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BMC Medical Genetics

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A deletion and a duplication i ...... inical implications and review

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Alicia Delicado

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Eva Valverde

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Federico Hawkins

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Fernando Santos

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Isidora López Pajares

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Julián Nevado

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Luis Fernández

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María Palomares

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Creative Commons Attribution 2.0 Generic

P2860

A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects

Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions

Role of TBX1 in human del22q11.2 syndrome

Microduplication and triplication of 22q11.2: a highly variable syndrome.

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects

High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays.

Detailed analysis of 22q11.2 with a high density MLPA probe set

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions

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10.1186/1471-2350-10-48

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10

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Victor Martínez-Glez

D. Heine-Suñer

L Garcia-Guereta

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2009-06-02T00:00:00Z

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1004950370

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19490635

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chromosomal deletion syndrome

genetic variation

atrial heart septal defect

ventricular septal defect

P932

2700091

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