Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity.
about
Solitary median maxillary central incisor (SMMCI) syndromeHistogenesis of retinal dysplasia in trisomy 13Physical 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 syndromeGas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehogSingle median maxillary central incisor: new data and mutation review.Expression of Sonic Hedgehog downstream genes is modified in rat embryos exposed in utero to a distal inhibitor of cholesterol biosynthesis.De novo 7q36 deletion: breakpoint analysis and types of holoprosencephaly.Analysis of genotype-phenotype correlations in human holoprosencephaly.Holoprosencephaly in the west of Scotland 1975-1994.Currarino triad with a terminal deletion 7q35-->qter.Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephalyGenetic approaches to understanding brain development: holoprosencephaly as a model.SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature.PTCH1 duplication in a family with microcephaly and mild developmental delayThe unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.A chromosomal deletion map of human malformations.Multiple hits during early embryonic development: digenic diseases and holoprosencephalyExtreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephalySignaling by bone morphogenetic proteins directs formation of an ectodermal signaling center that regulates craniofacial development.Novel mutations mapping to the fourth sodium channel domain of Nav1.7 result in variable clinical manifestations of primary erythromelalgiaPrimary structure, neural-specific expression, and chromosomal localization of Cux-2, a second murine homeobox gene related to Drosophila cut.Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly.Molecular prenatal diagnosis of a sporadic alobar holoprosencephalic fetus: genotype-phenotype correlations.Holoprosencephaly: molecular study of a California population.A single morphogenetic field gives rise to two retina primordia under the influence of the prechordal plate.Single-cell RNA-seq reveals dynamic, random monoallelic gene expression in mammalian cells.Face facts: genes, environment, and clefts.Holoprosencephaly: epidemiologic and clinical characteristics of a California population.Descriptive epidemiology of holoprosencephaly and arhinencephaly in metropolitan Atlanta, 1968-1992.Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984-1989.Rare Disease: Lobar Holoprosencephaly With a Median Cleft Lip-Case Report.Misclassification risk of patients with bilateral cleft lip and palate and manifestations of median facial dysplasia: A new variant of del(22q11.2) syndrome?Prenatal ultrasound diagnosis in 51 cases of holoprosencephaly: craniofacial anatomy, associated malformations, and genetics.Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization.A novel role for cilia-dependent sonic hedgehog signaling during submandibular gland development.Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome.The Role of Sonic Hedgehog in Craniofacial Patterning, Morphogenesis and Cranial Neural Crest Survival.A novel SIX3 mutation segregates with holoprosencephaly in a large family.
P2860
Q21203053-22DE5A66-5722-488F-B0A3-29C1EAEE28A9Q21203684-D1A6314E-8AD6-4231-8FEF-ADD3068448ABQ24671971-CA06923F-5E4F-48E2-A259-56D4A32E3938Q24672141-F1754721-16F6-4D6F-BC6A-2785292722DCQ28588813-E9A6E753-FB35-44F6-9A48-75E3732AE3A3Q31116560-CF88E823-2E2A-4DC1-A79C-084C24916E20Q31911416-F7E06FF0-F8AB-40E1-8455-323FFB8D920CQ32133736-40FB0441-47DE-4E02-8332-DA511040C89AQ33625707-56D0CA89-7EA2-45E0-9E19-E2C89FF06FAEQ33677544-56A2B36E-2F57-4366-9953-E701E873023FQ33677929-690262C0-FB5F-49E2-94DD-35928A21F978Q33679707-C7AA0D89-FE84-48F3-B17F-E67EED1269F6Q33971550-4AF0FE5E-C182-41DA-B023-A3D7045832B4Q34084974-D8463E47-B0F0-4A4B-95E0-C9DAA6EB6C6CQ34325586-707F9F94-9CE3-4ECF-BF2B-B14D97D688DEQ34329523-DB6D71D7-C84F-44A7-A72D-5B56C52FE6DCQ34387317-4E2316B5-480E-4BF9-91ED-0638CB476DCCQ34978312-072DD144-E3C2-464E-925E-F011E81BE05AQ35272809-2BDC01AC-2424-445D-A346-2F4F028D6138Q36366889-7289E1FC-48A3-4C50-A192-0937A16FF97CQ36832246-9BD6205F-8FA7-4AD2-BA92-E4456611C562Q38353128-89A2E6F7-2AED-4F9F-A52B-77759E93C52EQ41090374-755C315E-8836-4668-8C9F-85C65D18ECD4Q41677628-980ED068-CD17-48CD-9026-D49EF9D83907Q41724098-DB39A12A-EF7A-4950-9797-076B332BE050Q41829653-EE255451-204D-4AEF-B0AB-6174D2CCFDF7Q42774504-D20B4552-D389-4EFF-A7E8-B144FE7B00D1Q42950785-A1DAA405-5342-4D16-B22B-44426B31BD0BQ46047771-BCF8D29B-131D-4906-A62E-1EDC4EBF9EBFQ46360105-E81B69AF-1294-46E0-99F6-2ED4808B1E0FQ47636876-3B05D7F6-03FA-47E8-9BEF-190F0108D8D4Q48494005-6E7B83B9-F86A-42AE-9CB4-959B9A625A0AQ48950884-6DC7F06F-1634-4813-B1E2-DFFA644BF93BQ51607104-BE971C0D-69E0-468A-9DCE-35533CA9C6B5Q51848445-0E6FE531-6E2A-4178-93F4-90A2A6AF6F82Q52658808-BCF3EC1D-070A-4956-A22C-048BE9E8C3ACQ53466436-4FFF1EC6-5CFF-45FD-87D6-AF231E4BA4A2Q55379274-9E34E348-B84F-4F86-805E-883C2CD242E7Q55423142-7AFE59D3-4940-45A2-8CB8-2ADE197BA2D3
P2860
Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity.
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
1994年论文
@zh
1994年论文
@zh-cn
name
Linkage of a human brain malfo ...... nce for genetic heterogeneity.
@ast
Linkage of a human brain malfo ...... nce for genetic heterogeneity.
@en
type
label
Linkage of a human brain malfo ...... nce for genetic heterogeneity.
@ast
Linkage of a human brain malfo ...... nce for genetic heterogeneity.
@en
prefLabel
Linkage of a human brain malfo ...... nce for genetic heterogeneity.
@ast
Linkage of a human brain malfo ...... nce for genetic heterogeneity.
@en
P2093
P2860
P356
P1476
Linkage of a human brain malfo ...... nce for genetic heterogeneity.
@en
P2093
A L Collins
G B Schaefer
M S Lubinsky
R C Hennekam
V P Johnson
P2860
P304
P356
10.1073/PNAS.91.17.8102
P407
P577
1994-08-01T00:00:00Z