Holoprosencephaly in an infant with a minute deletion of chromosome 21(q22.3).
about
Down syndrome-critical region contains a gene homologous to Drosophila sim expressed during rat and human central nervous system developmentPhysical 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 syndromeAnalysis of chromosome 21 yeast artificial chromosome (YAC) clonesDeficiencies in the region syntenic to human 21q22.3 cause cognitive deficits in mice.Holoprosencephaly.Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).Telomeres: a diagnosis at the end of the chromosomesMolecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 regionSemilobar holoprosencephaly with 21q22 deletion: an autopsy report.Down syndrome congenital heart disease: a narrowed region and a candidate gene.Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22
P2860
Q24562781-0F5571A1-1E58-4599-B9C2-ECDF5475E3AAQ24672141-C55DEFC8-A771-4CD2-BF8B-E343150DCE4BQ24679560-320C162A-97E8-48D3-A12A-ECED8D14CE33Q30497935-DA0FDAB5-2554-4D32-B987-6CE37992ABF2Q31097430-27109428-1541-4B5C-A52B-20B78709F498Q33681040-B16837CC-3B43-4719-AABF-FDEA1BC2F21CQ35154981-13924140-75C2-4A25-9930-A4CDF34D1548Q35643522-47BBA6C6-CFF8-4A1C-B513-0249F481D68CQ37656839-32FB6316-8919-4253-BA85-0A00C6C64AF6Q43706855-B2900434-D980-429D-91A8-6743D6B7CF5FQ54987240-46DBFEBD-0C4C-44E3-BAE5-32D9EBE66979Q57748248-D6207FFC-0054-4BE7-BB40-0E9E55336D0F
P2860
Holoprosencephaly in an infant with a minute deletion of chromosome 21(q22.3).
description
1990 nî lūn-bûn
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1990年の論文
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1990年学术文章
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1990年学术文章
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name
Holoprosencephaly in an infant with a minute deletion of chromosome 21
@nl
Holoprosencephaly in an infant with a minute deletion of chromosome 21(q22.3).
@en
type
label
Holoprosencephaly in an infant with a minute deletion of chromosome 21
@nl
Holoprosencephaly in an infant with a minute deletion of chromosome 21(q22.3).
@en
prefLabel
Holoprosencephaly in an infant with a minute deletion of chromosome 21
@nl
Holoprosencephaly in an infant with a minute deletion of chromosome 21(q22.3).
@en
P2093
P2860
P356
P1476
Holoprosencephaly in an infant with a minute deletion of chromosome 21(q22.3).
@en
P2093
Aylsworth AS
Donahue RP
Estabrooks LL
P2860
P304
P356
10.1002/AJMG.1320360312
P577
1990-07-01T00:00:00Z