Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization - Wikidata - awgldk - TriplyDB

Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization

Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization

http://www.wikidata.org/entity/Q33942314

about

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH New Insights into Congenital Diaphragmatic Hernia - A Surgeon's Introduction to CDH Animal Models.Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia.Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics.Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay Genetic aspects of human congenital diaphragmatic hernia.Genetic tools and algorithms for gene discovery in major congenital anomalies.Abnormal Paraventricular Nucleus of Hypothalamus and Growth Retardation Associated with Loss of Nuclear Receptor Gene COUP-TFII Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH.Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia Prenatal diagnosis of a fetus with ring chromosomal 15 by two- and three-dimensional ultrasonography.COUP-TFs and eye development Genetic causes of congenital diaphragmatic hernia Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia Genetic factors in congenital diaphragmatic hernia.Coup d'Etat: an orphan takes control.Recent advances in array comparative genomic hybridization technologies and their applications in human genetics.Molecular genetics of congenital diaphragmatic defects.Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.Pre- and Postnatal Analysis of Chromosome 15q26.1 and 8p23.1 Deletions in Congenital Diaphragmatic Hernia.Congenital diaphragmatic hernia and pulmonary hypoplasia: new insights from developmental biology and genetics Linking animal models to human congenital diaphragmatic hernia.Kif7 is required for the patterning and differentiation of the diaphragm in a model of syndromic congenital diaphragmatic hernia.A pediatric surgeon retools in genetics and genomics to study congenital diaphragmatic hernia Can we improve outcome of congenital diaphragmatic hernia?Rare variants in NR2F2 cause congenital heart defects in humans.The transcriptional control of lymphatic vascular development.Copy-number changes in prenatal diagnosis.Developmental and genetic aspects of congenital diaphragmatic hernia.Development of the diaphragm -- a skeletal muscle essential for mammalian respiration.Pulmonary vascular development goes awry in congenital lung abnormalities.Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies.Congenital diaphragmatic hernias: from genes to mechanisms to therapies.Left-sided congenital diaphragmatic hernia with multiple congenital cardiac anomalies, hernia sac, and microscopic hepatic heterotopia: a case report Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: contradictory results.Dietary vitamin A intake below the recommended daily intake during pregnancy and the risk of congenital diaphragmatic hernia in the offspring.Comprehensive pathway-based analysis identifies associations of BCL2, GNAO1 and CHD2 with non-obstructive azoospermia risk.Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia.Hepatic pulmonary fusion: two cases with diaphragmatic hernia and one case with Pentalogy of Cantrell.

P2860

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P2860

Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization

http://www.wikidata.org/entity/Q33942314

description

2005 nî lūn-bûn

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2005 թուականի Մարտին հրատարակուած գիտական յօդուած

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2005 թվականի մարտին հրատարակված գիտական հոդված

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2005年の論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年论文

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Congenital diaphragmatic herni ...... parative genomic hybridization

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Congenital diaphragmatic herni ...... parative genomic hybridization

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Congenital diaphragmatic herni ...... parative genomic hybridization

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Congenital diaphragmatic herni ...... parative genomic hybridization

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American Journal of Human Genetics

P1476

Congenital diaphragmatic herni ...... parative genomic hybridization

@en

P2093

A T den Dekker

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A de Klein

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B A Oostra

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C Lee

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D Tibboel

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

H Douben

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

H J Eussen

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J Wauters

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M Klaassens

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M van Dooren

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P2860

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Human STX polysialyltransferase forms the embryonic form of the neural cell adhesion molecule. Tissue-specific expression, neurite outgrowth, and chromosomal localization in comparison with another polysialyltransferase, PST

Ring chromosome 15 in a patient with features of Fryns' syndrome

The orphan nuclear receptor COUP-TFII is required for angiogenesis and heart development

Analysis of reciprocal translocations by chromosome painting: applications and limitations of the technique.

Outcome of congenital diaphragmatic hernia.

Retinoid receptors in the developing human lung.

A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities.

P304

877-882

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scholarly article

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10.1086/429842

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5

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76

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7983109

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15750894

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P921

congenital diaphragmatic hernia

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1199376

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