The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients - Wikidata - awgldk - TriplyDB

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

http://www.wikidata.org/entity/Q29026784

about

Manteia, a predictive data mining system for vertebrate genes and its applications to human genetic diseases Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome.Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.New data and features for advanced data mining in Manteia.VARPRISM: incorporating variant prioritization in tests of de novo mutation association.Sleep in Children with Autism Spectrum Disorder.Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.Chemical genomic analysis of GPR35 signaling.Advances in the Physiology of GPR55 in the Central Nervous System.2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis.Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion.Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations.A ceRNA approach may unveil unexpected contributors to deletion syndromes, the model of 5q- syndrome.Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.Neuropsychological profiles of patients with 2q37.3 deletion associated with developmental dyspraxia.Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.Analysis copy number variation of Chinese children in early-onset epileptic encephalopathies with unknown cause.Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.Deletion 2q37 syndrome: Cognitive-behavioral trajectories and autistic features related to breakpoint and deletion size.Reorganization of chromosomal interactions in the 2q37-deletion syndrome

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The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

http://www.wikidata.org/entity/Q29026784

description

2012 nî lūn-bûn

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2012 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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European Journal of Human Genetics

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The 2q37-deletion syndrome: an ...... al features in 14 new patients

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Agathe Paubel

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Albert David

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Bruno Delobel

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Bruno Leheup

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Camille Leroy

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Caroline Fiquet

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Cedric Le Caignec

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Dominique Gaillard

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Emilie Landais

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Francine Mugneret

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Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter

Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

Development of lupus-like autoimmune diseases by disruption of the PD-1 gene encoding an ITIM motif-carrying immunoreceptor

Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region

Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene

A case of deletion 2q35----qter and a peculiar phenotype.

Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.

Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR.

An optimized set of human telomere clones for studying telomere integrity and architecture.

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602-612

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3894176

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10.1038/EJHG.2012.230

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6

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21

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Sylvain Briault

Christel Thauvin-Robinet

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2012-10-17T00:00:00Z

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232277700

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23073310

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3658200

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