Holoprosencephaly: epidemiologic and clinical characteristics of a California population

scientific article published in August 1996

Holoprosencephaly: epidemiologic and clinical characteristics of a California population is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/(SICI)1096-8628(19960823)64:3<465::AID-AJMG4>3.0.CO;2-O
P698PubMed publication ID8862623

P2093author name stringShaw GM
Lammer EJ
Croen LA
P2860cites workAbsent left hemidiaphragm, arhinencephaly, and cardiac malformationsQ24514930
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerationsQ28280013
Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre studyQ33596801
Retinoic acid embryopathyQ34686260
Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneityQ35682457
Birth defects monitoring in California: a resource for epidemiological researchQ36838634
Pseudo-trisomy 13 syndromeQ37232575
Clinical, cytogenetic, and molecular approaches to the genetic heterogeneity of holoprosencephalyQ38720462
Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuitiesQ38720465
Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromologyQ38735488
Interference with gastrulation during the third week of pregnancy as a cause of some facial abnormalities and CNS defectsQ39562851
Holoprosencephaly as a possible embryonic alcohol effectQ41161768
Cytogenetic variants in holoprosencephaly. Report of a case and review of the literatureQ41674387
Microcephaly, holoprosencephaly, hypokinesia--second report of a new syndromeQ41932246
Holoprosencephaly and agenesis of the corpus callosum: frequency of associated malformationsQ41935680
Holoprosencephaly in human embryos: Epidemiologic studies of 150 casesQ45159232
Holoprosencephaly and maternal low‐calorie weight‐reducing dietQ47420872
Cyclopia and congenital cytomegalovirus infectionQ48217524
Cyclopia and maternal ingestion of salicylatesQ48392511
Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21.Q49130825
Pathoarchitectonic studies of cerebral malformations. III. Arrhinencephalies (holotelencephalies).Q51317805
Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk.Q52883067
P433issue3
P921main subjectCaliforniaQ99
holoprosencephalyQ1459821
P304page(s)465-472
P577publication date1996-08-01
P1433published inAmerican Journal of Medical Genetics Part AQ15755121
P1476titleHoloprosencephaly: epidemiologic and clinical characteristics of a California population
P478volume64

Reverse relations

cites work (P2860)
Q56261843Alobar holoprosencephaly associated with a rare chromosomal abnormality: Case report and literature review
Q44765854Biparietal diameter at 11 to 13 weeks' gestation in fetuses with holoprosencephaly
Q51918192Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.
Q36435480Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function
Q35794722Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research.
Q92562538Epidemiological characteristics of holoprosencephaly in China, 2007-2014: A retrospective study based on the national birth defects surveillance system
Q47636876Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984-1989.
Q33971550Genetic approaches to understanding brain development: holoprosencephaly as a model
Q31097430Holoprosencephaly
Q82029948Holoprosencephaly
Q33624989Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature
Q48887067Holoprosencephaly associated with an apparent isolated 2q37.1-->2q37.3 deletion
Q34041428Holoprosencephaly: a guide to diagnosis and clinical management
Q48400659Holoprosencephaly: a paradigm for the complex genetics of brain development
Q38696737Holoprosencephaly: antenatal and postnatal diagnosis and outcome
Q41724098Holoprosencephaly: molecular study of a California population
Q26824602Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans
Q46954297In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics
Q33914463Iniencephaly and holoprosencephaly: report of a rare association
Q35973166Links between abnormal brain structure and cognition in holoprosencephaly
Q53290619Long-term survival and late onset seizures in an adolescent with trisomy 13
Q30428177Loss of Tgif function causes holoprosencephaly by disrupting the SHH signaling pathway
Q44647467MRI and 1H�MRS findings in Smith-Lemli-Opitz syndrome
Q36422457Magnetic resonance microscopy defines ethanol-induced brain abnormalities in prenatal mice: effects of acute insult on gestational day 7
Q33857211Magnetic resonance-based imaging in animal models of fetal alcohol spectrum disorder
Q37697812Molecular analysis of holoprosencephaly in South America
Q34472245Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes
Q35528156Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals
Q48182781Non Vascular Congenital Brain Malformations. An MR Study of 5000 Patients
Q36162965Otocephaly: Agnathia- Microstomia-Synotia Syndrome- A Rare Congenital Anomaly
Q37621501Pfeiffer-like syndrome with holoprosencephaly: a newborn with maternal smoking and alcohol exposure
Q84613896Prenatal diagnosis and molecular analysis of triploidy in a fetus with intrauterine growth restriction, relative macrocephaly and holoprosencephaly
Q33679460Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly
Q73290757Prenatal diagnosis of holoprosencephaly (HPE) in a fetus with a recombinant (18)dup(18q)inv(18)(p11.31q11.2)mat
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Q37606822Prenatal sonographic features of fetuses in trisomy 13 pregnancies (I).
Q37606825Prenatal sonographic features of fetuses in trisomy 13 pregnancies (II).
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Q41600687Semi Lobar Holoprosencephaly with Vertebral Segmentation Defects
Q37656839Semilobar holoprosencephaly with 21q22 deletion: an autopsy report
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Q41921122Spectrum of holoprosencephaly
Q46989159TGIF, a gene associated with human brain defects, regulates neuronal development
Q33758266Targeted disruption of Tgif, the mouse ortholog of a human holoprosencephaly gene, does not result in holoprosencephaly in mice
Q34587480Teratogenesis of holoprosencephaly
Q37643130Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18.
Q33794557Towards a greater understanding of the pathogenesis of holoprosencephaly
Q46903255Zebrafish model of holoprosencephaly demonstrates a key role for TGIF in regulating retinoic acid metabolism

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