Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome - Test2 - elhamkhani - TriplyDB

Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome

Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome

http://www.wikidata.org/entity/Q24538670

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Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations Group 13 HOX proteins interact with the MH2 domain of R-Smads and modulate Smad transcriptional activation functions independent of HOX DNA-binding capability.The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina)--phenotypic manifestations and genetic approaches Lower urinary tract development and disease Review of the molecular development of the thumb: digit primera Human HOX gene mutations Complete mutation analysis panel of the 39 human HOX genes HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy Limb malformations and the human HOX genes Expanded HOXA13 polyalanine tracts in a monotreme The loss of Hoxa5 function causes estrous acyclicity and ovarian epithelial inclusion cysts.Dlx5 Homeodomain:DNA Complex: Structure, Binding and Effect of Mutations Related to Split Hand and Foot Malformation Syndrome.Candidate gene analysis in a case of congenital absence of the endometrium.Saturation of the human phenome Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.A novel mutation of HOXA13 in a family with hand-foot-genital syndrome and the role of polyalanine expansions in the spectrum of Müllerian fusion anomalies Molecular evolution of the homeodomain family of transcription factors Molecular genetics of Müllerian duct formation, regression and differentiation Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report.Survival of Hoxa13 homozygous mutants reveals a novel role in digit patterning and appendicular skeletal development Missense mutations of human homeoboxes: A review.The homeobox transcription factor HOXA9 is a regulator of SHOX in U2OS cells and chicken micromass cultures Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy.A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients Comparative gene expression analysis of genital tubercle development reveals a putative appendicular Wnt7 network for the epidermal differentiation Drosophila, the golden bug, emerges as a tool for human genetics.A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome.Molecular evolution of HoxA13 and the multiple origins of limbless morphologies in amphibians and reptiles.HOX genes: seductive science, mysterious mechanisms.The makings of maleness: towards an integrated view of male sexual development.HOX genes: Major actors in resistance to selective endocrine response modifiers.Diminished vaginal HOXA13 expression in women with pelvic organ prolapse Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes.Fork stalling and template switching as a mechanism for polyalanine tract expansion affecting the DYC mutant of HOXD13, a new murine model of synpolydactyly.Oncogenic function of the homeobox A13-long noncoding RNA HOTTIP-insulin growth factor-binding protein 3 axis in human gastric cancer.Engrailed homeobox transcription factors as potential markers and targets in cancer.Carpal Coalitions and Metacarpal Synostoses: A Review Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract.

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Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome

http://www.wikidata.org/entity/Q24538670

description

2000 nî lūn-bûn

@nan

2000 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2000 թվականի հուլիսին հրատարակված գիտական հոդված

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2000年の論文

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2000年論文

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2000年論文

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2000年論文

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2000年論文

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2000年論文

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2000年论文

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name

Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome

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Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome

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Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome

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type

label

Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome

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Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome

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Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome

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Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome

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Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome

@en

Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome

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American Journal of Human Genetics

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Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome

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A E Donnenfeld

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A F Brady

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C Bacchelli

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D P Mortlock

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F A Beemer

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F R Goodman

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J P Fryns

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J W Innis

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L A Brueton

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L B Holmes

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P2860

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract

Mutation of HOXA13 in hand-foot-genital syndrome

Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13

Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.

Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families

Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13

Synpolydactyly in mice with a targeted deficiency in the HoxD complex

A new family with the hand-foot-genital syndrome--a wider spectrum of the hamd-foot-uterus syndrome.

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197-202

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1003153

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10.1086/302961

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1

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12478269

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10839976

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1287077

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