scholarly article | Q13442814 |
P356 | DOI | 10.1002/(SICI)1096-8628(19960823)64:3<465::AID-AJMG4>3.0.CO;2-O |
P698 | PubMed publication ID | 8862623 |
P2093 | author name string | Shaw GM | |
Lammer EJ | |||
Croen LA | |||
P2860 | cites work | Absent left hemidiaphragm, arhinencephaly, and cardiac malformations | Q24514930 |
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations | Q28280013 | ||
Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study | Q33596801 | ||
Retinoic acid embryopathy | Q34686260 | ||
Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity | Q35682457 | ||
Birth defects monitoring in California: a resource for epidemiological research | Q36838634 | ||
Pseudo-trisomy 13 syndrome | Q37232575 | ||
Clinical, cytogenetic, and molecular approaches to the genetic heterogeneity of holoprosencephaly | Q38720462 | ||
Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities | Q38720465 | ||
Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology | Q38735488 | ||
Interference with gastrulation during the third week of pregnancy as a cause of some facial abnormalities and CNS defects | Q39562851 | ||
Holoprosencephaly as a possible embryonic alcohol effect | Q41161768 | ||
Cytogenetic variants in holoprosencephaly. Report of a case and review of the literature | Q41674387 | ||
Microcephaly, holoprosencephaly, hypokinesia--second report of a new syndrome | Q41932246 | ||
Holoprosencephaly and agenesis of the corpus callosum: frequency of associated malformations | Q41935680 | ||
Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases | Q45159232 | ||
Holoprosencephaly and maternal low‐calorie weight‐reducing diet | Q47420872 | ||
Cyclopia and congenital cytomegalovirus infection | Q48217524 | ||
Cyclopia and maternal ingestion of salicylates | Q48392511 | ||
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 | ||
P433 | issue | 3 | |
P921 | main subject | California | Q99 |
holoprosencephaly | Q1459821 | ||
P304 | page(s) | 465-472 | |
P577 | publication date | 1996-08-01 | |
P1433 | published in | American Journal of Medical Genetics Part A | Q15755121 |
P1476 | title | Holoprosencephaly: epidemiologic and clinical characteristics of a California population | |
P478 | volume | 64 |
Q56261843 | Alobar holoprosencephaly associated with a rare chromosomal abnormality: Case report and literature review |
Q44765854 | Biparietal diameter at 11 to 13 weeks' gestation in fetuses with holoprosencephaly |
Q51918192 | Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE. |
Q36435480 | Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function |
Q35794722 | Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research. |
Q92562538 | Epidemiological characteristics of holoprosencephaly in China, 2007-2014: A retrospective study based on the national birth defects surveillance system |
Q47636876 | Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984-1989. |
Q33971550 | Genetic approaches to understanding brain development: holoprosencephaly as a model |
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Q33624989 | Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature |
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Q41724098 | Holoprosencephaly: molecular study of a California population |
Q26824602 | Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans |
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Q33914463 | Iniencephaly and holoprosencephaly: report of a rare association |
Q35973166 | Links between abnormal brain structure and cognition in holoprosencephaly |
Q53290619 | Long-term survival and late onset seizures in an adolescent with trisomy 13 |
Q30428177 | Loss of Tgif function causes holoprosencephaly by disrupting the SHH signaling pathway |
Q44647467 | MRI and 1H�MRS findings in Smith-Lemli-Opitz syndrome |
Q36422457 | Magnetic resonance microscopy defines ethanol-induced brain abnormalities in prenatal mice: effects of acute insult on gestational day 7 |
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Q34472245 | Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes |
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Q37606822 | Prenatal sonographic features of fetuses in trisomy 13 pregnancies (I). |
Q37606825 | Prenatal sonographic features of fetuses in trisomy 13 pregnancies (II). |
Q51607104 | Prenatal ultrasound diagnosis in 51 cases of holoprosencephaly: craniofacial anatomy, associated malformations, and genetics. |
Q41600687 | Semi Lobar Holoprosencephaly with Vertebral Segmentation Defects |
Q37656839 | Semilobar holoprosencephaly with 21q22 deletion: an autopsy report |
Q55510359 | Semilobar holoprosencephaly with cebocephaly associated with maternal early onset preeclampsia: a case report. |
Q41921122 | Spectrum of holoprosencephaly |
Q46989159 | TGIF, a gene associated with human brain defects, regulates neuronal development |
Q33758266 | Targeted disruption of Tgif, the mouse ortholog of a human holoprosencephaly gene, does not result in holoprosencephaly in mice |
Q34587480 | Teratogenesis of holoprosencephaly |
Q37643130 | Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18. |
Q33794557 | Towards a greater understanding of the pathogenesis of holoprosencephaly |
Q46903255 | Zebrafish model of holoprosencephaly demonstrates a key role for TGIF in regulating retinoic acid metabolism |
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