Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly

scientific article

Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P356DOI10.1136/JMG.34.9.777
P932PMC publication ID1051067
P698PubMed publication ID9321769
P5875ResearchGate publication ID13903867

P2093author name stringLee CC
Chen LF
Chen CP
Jan SW
Chuang CY
Chen BF
P2860cites workLobar holoprosencephaly and Xq22 deletionQ67839681
CNS anomalies and the midline as a "developmental field"Q70468517
De novo interstitial proximal deletion of 14q and prenatal diagnosis of holoprosencephalyQ71856528
De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigationsQ72849457
Human gene mapping 11. London Conference (1991). Eleventh International Workshop on Human Gene Mapping. London, UK, August 18-22, 1991Q93508047
Mutations in the human Sonic Hedgehog gene cause holoprosencephalyQ28116314
Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicismQ38221849
Isochromosome 18q in a girl with holoprosencephaly, DiGeorge anomaly, and streak ovariesQ40844401
First case of deletion 14q11.2q13: clinical phenotype.Q41929418
Holoprosencephaly: epidemiologic and clinical characteristics of a California populationQ46047771
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephalyQ48058539
P433issue9
P407language of work or nameEnglishQ1860
P304page(s)777-778
P577publication date1997-09-01
P1433published inJournal of Medical GeneticsQ14640281
P1476titlePrenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly
P478volume34

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cites work (P2860)
Q52436271"Minimal" holoprosencephaly in a 14q deletion syndrome patient.
Q28259203A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin
Q28289059Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue
Q52132068Corpus 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)].
Q33681783De 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
Q34410073Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes
Q47618825Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes
Q47570757Exploring 3-dimensional imaging techniques in the prenatal interrogation of cebocephaly
Q41768738Holoprosencephaly in deletions of proximal chromosome 14q.
Q48400659Holoprosencephaly: a paradigm for the complex genetics of brain development
Q84613896Prenatal diagnosis and molecular analysis of triploidy in a fetus with intrauterine growth restriction, relative macrocephaly and holoprosencephaly
Q37606825Prenatal sonographic features of fetuses in trisomy 13 pregnancies (II).
Q34010175Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion
Q46654914TULIP1 (RALGAPA1) haploinsufficiency with brain development delay

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