Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology.
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The sonic hedgehog-patched-gli pathway in human development and diseasePhysical mapping of the holoprosencephaly critical region in 18p11.3Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndromeFunctional analysis of mutations in TGIF associated with holoprosencephaly.Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humansDevelopmental field defects: coming together of associations and sequences during blastogenesisGas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehogAuditory event-related responses in children with semi-lobar holoprosencephaly.Holoprosencephaly.Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.Holoprosencephaly and polydactyly: a possible expression of the hydrolethalus syndrome.Holoprosencephaly in the west of Scotland 1975-1994.Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephalyGenetic approaches to understanding brain development: holoprosencephaly as a model.Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature.Boc modifies the spectrum of holoprosencephaly in the absence of Gas1 functionConstruction for the modern head: current concepts in craniofacial development.Congenital nasal pyriform aperture stenosis: diagnosis and management of 20 cases.Teratogenesis of holoprosencephaly.Hedgehog in the human: a possible explanation for the VATER association.Multiple hits during early embryonic development: digenic diseases and holoprosencephalyBoc modifies the holoprosencephaly spectrum of Cdo mutant mice.Impact of retinoic acid exposure on midfacial shape variation and manifestation of holoprosencephaly in Twsg1 mutant mice.Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephalyMutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity.Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research.Links between abnormal brain structure and cognition in holoprosencephalyGenetic links between brain development and brain evolution.Novel sonic hedgehog mutation in a couple with variable expression of holoprosencephaly.Magnetic resonance microscopy defines ethanol-induced brain abnormalities in prenatal mice: effects of acute insult on gestational day 7Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and functionEmbryonic holoprosencephaly: pathology and phenotypic variability.Adriamycin-Induced Models of VACTERL Association.Holoprosencephaly with multiple anomalies of the craniofacial bones-an autopsy report.The process of syndrome delineation and the heterogeneity of hearing loss.Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18.Roles of bone morphogenetic protein signaling and its antagonism in holoprosencephaly.Holoprosencephaly: antenatal and postnatal diagnosis and outcome.The Carter Neurocognitive Assessment for children with severely compromised expressive language and motor skills.
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Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology.
description
1989 nî lūn-bûn
@nan
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
1989年论文
@zh
1989年论文
@zh-cn
name
Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology.
@en
type
label
Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology.
@en
prefLabel
Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology.
@en
P2860
P356
P1476
Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology.
@en
P2093
Cohen MM Jr
P2860
P304
P356
10.1002/TERA.1420400304
P577
1989-09-01T00:00:00Z