about
Missense mutation in the alternative splice region of the PAX6 gene in eye anomaliesMutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type INovel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex developmentMost germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evidentPoint mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndromeMisexpression of Six2 is associated with heritable frontonasal dysplasia and renal hypoplasia in 3H1 Br miceAneuploidy: cells losing their balanceDelineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11Bias of selection on human copy-number variants.SHOX gene in Leri-Weill syndrome and in idiopathic short staturePositional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative GroupA copy number variation morbidity map of developmental delayThree novel PAX6 mutations in patients with aniridia.The new dysmorphology: application of insights from basic developmental biology to the understanding of human birth defects.A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0Modeling stochastic gene expression: implications for haploinsufficiency.Monoallelic expression of Pax5: a paradigm for the haploinsufficiency of mammalian Pax genes?gld-1, a tumor suppressor gene required for oocyte development in Caenorhabditis elegansA continuum model for tumour suppression.Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development.Discovering the targets of drugs via computational systems biology.A de novo apparently balanced translocation [46,XY,t(2;9)(p13;p24)] interrupting RAB11FIP5 identifies a potential candidate gene for autism spectrum disorder.The miR-155-PU.1 axis acts on Pax5 to enable efficient terminal B cell differentiationThe Characteristics of Heterozygous Protein Truncating Variants in the Human Genome.Cooperation of Pax2 and Pax5 in midbrain and cerebellum developmentα-Thalassemia, mental retardation, and myelodysplastic syndrome.Genotype-phenotype correlation of PAX6 gene mutations in aniridiaThe vav exchange factor is an essential regulator in actin-dependent receptor translocation to the lymphocyte-antigen-presenting cell interface.Different skeletal phenotypes in a mother and two daughters with short stature homeobox-containing haploinsufficiency.Haplo-insufficiency: a driving force in cancer.Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations.Widespread transcriptional autosomal dosage compensation in Drosophila correlates with gene expression level.Genetics of aniridia and anterior segment dysgenesisConsequences of nonadaptive alterations in cancer.Campomelic dysplasia with XY sex reversal: diverse phenotypes resulting from mutations in a single gene.Why is there no diploid overdose effect in Prader-Willi syndrome due to uniparental disomy?Dosage-sensitive genes in evolution and disease."Mistakes happen": somatic mutation and disease.Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in tetralogy of Fallot and pulmonary atresia-ventricular septal defect.AUXIN-BINDING-PROTEIN1 (ABP1) in phytochrome-B-controlled responses.
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P2860
description
im Mai 1994 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в травні 1994
@uk
name
Human haploinsufficiency — one for sorrow, two for joy
@en
Human haploinsufficiency — one for sorrow, two for joy
@nl
type
label
Human haploinsufficiency — one for sorrow, two for joy
@en
Human haploinsufficiency — one for sorrow, two for joy
@nl
prefLabel
Human haploinsufficiency — one for sorrow, two for joy
@en
Human haploinsufficiency — one for sorrow, two for joy
@nl
P356
P1433
P1476
Human haploinsufficiency — one for sorrow, two for joy
@en
P2093
Elizabeth Fisher
P2888
P356
10.1038/NG0594-5
P407
P577
1994-05-01T00:00:00Z