A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36.
about
A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesisInvolvement of the HLXB9 homeobox gene in Currarino syndromeMutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.A minimalist approach to gene mapping: locating the gene for acheiropodia, by homozygosity analysis.An unusual case of the complete Currarino triad: case report, discussion of the literature and the embryogenic implications.Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.Defects in the determination of left-right asymmetry.Currarino triad with a terminal deletion 7q35-->qter.Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth.Isolated sacral agenesis in a fetus monosomic for 7q36.1-->qter.Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephalyARP3beta, the gene encoding a new human actin-related protein, is alternatively spliced and predominantly expressed in brain neuronal cells.Autosomal dominant sacral agenesis: Currarino syndrome.OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): a review of 14 cases.A chromosomal deletion map of human malformations.Immune genes are associated with human glioblastoma pathology and patient survival.Genomewide scan for anal atresia in swine identifies linkage and association with a chromosome region on Sus scrofa chromosome 1.Leiomyomatosis peritonealis disseminata in association with Currarino syndrome?"This bicycle gives me a headache", a congenital anomaly.A genetic study of the human T gene and its exclusion as a major candidate gene for sacral agenesis with anorectal atresia.The Currarino triad: neurosurgical considerations.Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements.Sacral agenesis and neurogenic bladder: Long-term outcomes of bladder and kidney function.Caudal dysgenesis in Islet-1 transgenic mice.Associations of anorectal malformations and related syndromes.Sirenomelia in a Cameroonian woman: a case report and review of the literature.Thoracic epidural teratoma: case report and review of the literature.Anorectal malformation: the etiological factors.Sacral Agenesis with Neurogenic Bladder Dysfunction-A Case Report and Review of the Literature.Terminal deletion of the chromosome 7(q36-qter) in an infant with sacral agenesis and anterior myelomeningocele.Ring chromosome 7 and sacral agenesis.Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene.A review of genetic factors contributing to the etiopathogenesis of anorectal malformations.Comparative genomic analysis of the false killer whale (Pseudorca crassidens) LMBR1 locus.Surgical management for a huge presacral teratoma and a meningocele in an adult with Currarino triad: a case report.Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3.Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome.Polarity, proliferation and the hedgehog pathway.First case of Currarino syndrome and trimethylaminuria: two rare diseases for a complex clinical presentation.Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion.
P2860
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P2860
A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36.
description
1995 nî lūn-bûn
@nan
1995 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
A gene for autosomal dominant ...... oprosencephaly region at 7q36.
@ast
A gene for autosomal dominant ...... oprosencephaly region at 7q36.
@en
A gene for autosomal dominant ...... oprosencephaly region at 7q36.
@nl
type
label
A gene for autosomal dominant ...... oprosencephaly region at 7q36.
@ast
A gene for autosomal dominant ...... oprosencephaly region at 7q36.
@en
A gene for autosomal dominant ...... oprosencephaly region at 7q36.
@nl
prefLabel
A gene for autosomal dominant ...... oprosencephaly region at 7q36.
@ast
A gene for autosomal dominant ...... oprosencephaly region at 7q36.
@en
A gene for autosomal dominant ...... oprosencephaly region at 7q36.
@nl
P2093
P2860
P50
P356
P1433
P1476
A gene for autosomal dominant ...... loprosencephaly region at 7q36
@en
P2093
P2860
P2888
P356
10.1038/NG0995-93
P407
P577
1995-09-01T00:00:00Z