about
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and miceMetopic synostosisFamilial translocation t(9;16).Deletion 9p and sex reversal.Familial half cryptic translocation t(9;17).A mild phenotype associated with der(9)t(3;9) (p25;p23).Impaired male sex development in an infant with molecularly defined partial 9p monosomy: implication for a testis forming gene(s) on 9p.Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial cleftingChromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome.Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9pPartial trisomy 9p22 to 9p24.2 in combination with partial monosomy 9pter in a Syrian girl.Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPALong-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis.A familial "balanced" 3;9 translocation with cryptic 8q insertion leading to deletion and duplication of 9p23 loci in siblings.Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies.Cytogenetic and array-CGH characterization of a complex de novo rearrangement involving duplication and deletion of 9p and clinical findings in a 4-month-old female.Idiopathic central precocious puberty associated with 11 mb de novo distal deletion of the chromosome 9 short arm.A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42.Child with deletion 9p syndrome presenting with craniofacial dysmorphism, developmental delay, and multiple congenital malformations.Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature.
P2860
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P2860
description
1988 nî lūn-bûn
@nan
1988 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
name
Eleven new cases of del(9p) and features from 80 cases.
@ast
Eleven new cases of del(9p) and features from 80 cases.
@en
type
label
Eleven new cases of del(9p) and features from 80 cases.
@ast
Eleven new cases of del(9p) and features from 80 cases.
@en
prefLabel
Eleven new cases of del(9p) and features from 80 cases.
@ast
Eleven new cases of del(9p) and features from 80 cases.
@en
P2093
P2860
P1476
Eleven new cases of del(9p) and features from 80 cases.
@en
P2093
P2860
P304
P407
P577
1988-11-01T00:00:00Z