review article | Q7318358 |
scholarly article | Q13442814 |
P2093 | author name string | Lee CC | |
Chen LF | |||
Chen CP | |||
Jan SW | |||
Chuang CY | |||
Chen BF | |||
P2860 | cites work | Lobar holoprosencephaly and Xq22 deletion | Q67839681 |
CNS anomalies and the midline as a "developmental field" | Q70468517 | ||
De novo interstitial proximal deletion of 14q and prenatal diagnosis of holoprosencephaly | Q71856528 | ||
De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations | Q72849457 | ||
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Mutations in the human Sonic Hedgehog gene cause holoprosencephaly | Q28116314 | ||
Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicism | Q38221849 | ||
Isochromosome 18q in a girl with holoprosencephaly, DiGeorge anomaly, and streak ovaries | Q40844401 | ||
First case of deletion 14q11.2q13: clinical phenotype. | Q41929418 | ||
Holoprosencephaly: epidemiologic and clinical characteristics of a California population | Q46047771 | ||
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P433 | issue | 9 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 777-778 | |
P577 | publication date | 1997-09-01 | |
P1433 | published in | Journal of Medical Genetics | Q14640281 |
P1476 | title | Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly | |
P478 | volume | 34 |
Q52436271 | "Minimal" holoprosencephaly in a 14q deletion syndrome patient. |
Q28259203 | A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin |
Q28289059 | Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue |
Q52132068 | Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;;14) (pter;q11.2)]. |
Q33681783 | De novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partial hemihypoplasia |
Q34410073 | Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes |
Q47618825 | Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes |
Q47570757 | Exploring 3-dimensional imaging techniques in the prenatal interrogation of cebocephaly |
Q41768738 | Holoprosencephaly in deletions of proximal chromosome 14q. |
Q48400659 | Holoprosencephaly: a paradigm for the complex genetics of brain development |
Q84613896 | Prenatal diagnosis and molecular analysis of triploidy in a fetus with intrauterine growth restriction, relative macrocephaly and holoprosencephaly |
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Q34010175 | Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion |
Q46654914 | TULIP1 (RALGAPA1) haploinsufficiency with brain development delay |
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