| P2093 | author name string | Jin S Hahn | |
| P2860 | cites work | Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly | Q22009990 |
| | A novel homeobox protein which recognizes a TGT core and functionally interferes with a retinoid-responsive motif | Q24313957 |
| | Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. | Q24539117 |
| | Mutations in the human Sonic Hedgehog gene cause holoprosencephaly | Q28116314 |
| | Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination | Q28145579 |
| | A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects | Q28205546 |
| | The hedgehog signaling network | Q28209337 |
| | Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly | Q28213823 |
| | Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype | Q28216575 |
| | Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations | Q28268918 |
| | Cholesterol modification of hedgehog signaling proteins in animal development | Q28291005 |
| | Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function | Q28291924 |
| | Zic2 regulates the kinetics of neurulation | Q28509004 |
| | Molecular properties of Zic proteins as transcriptional regulators and their relationship to GLI proteins | Q28587793 |
| | Autoproteolysis in hedgehog protein biogenesis | Q28609804 |
| | Pituitary dysfunction, morbidity and mortality with congenital midline malformation of the cerebrum | Q33536974 |
| | Towards a greater understanding of the pathogenesis of holoprosencephaly | Q33794557 |
| | Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination | Q33941229 |
| | Mutations in holoprosencephaly | Q33988988 |
| | The role of cholesterol in Shh signaling and teratogen-induced holoprosencephaly | Q34113725 |
| | Floor plate and motor neuron induction by different concentrations of the amino-terminal cleavage product of sonic hedgehog autoproteolysis | Q34309695 |
| | Neuropathologic research strategies in holoprosencephaly | Q34489252 |
| | Teratogenesis of holoprosencephaly | Q34587480 |
| | Septo-optic dysplasia: MR imaging | Q34683684 |
| | Multiple hits during early embryonic development: digenic diseases and holoprosencephaly | Q34978312 |
| | Mouse models of holoprosencephaly | Q35088235 |
| | Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly | Q35272809 |
| | Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity | Q35682457 |
| | Evaluation and management of children with holoprosencephaly | Q35859115 |
| | Alobar holoprosencephaly with diabetes insipidus and neuronal migration disorder | Q36787896 |
| | Endocrine disorders associated with holoprosencephaly. | Q53644175 |
| | Risk factors for cytogenetically normal holoprosencephaly in California: A population-based case-control study | Q56171323 |
| | Alobar Holoprosencephaly (Arhinencephaly) with Median Cleft Lip and Palate: Clinical, Electroencephalographic and Nosologic Considerations (Part 1 of 2) | Q61948577 |
| | Association between holoprosencephaly and exposure to topical retinoids: results of the EUROCAT survey | Q67785273 |
| | Fetal holoprosencephaly: associated malformations and chromosomal defects | Q68390086 |
| | Arhinencephaly. The spectrum of associated malformations | Q69716398 |
| | Holoprosencephaly in infants of diabetic mothers | Q71690242 |
| | Holoprosencephaly and antiepileptic exposures | Q71769115 |
| | Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? | Q71959076 |
| | Holoprosencephaly and the teratogenicity of anticonvulsants | Q72027487 |
| | Investigation of the epidemiology and prenatal diagnosis of holoprosencephaly in the North of England | Q73873424 |
| | Holoprosencephaly | Q74631249 |
| | Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases | Q77652973 |
| | First trimester sonographic diagnosis of holoprosencephaly | Q78195367 |
| | Central nervous system and limb anomalies in case reports of first-trimester statin exposure | Q79891915 |
| | First-trimester sonographic diagnosis of holoprosencephaly: value of the "butterfly" sign | Q80314087 |
| | Prenatal diagnosis of lobar holoprosencephaly using color Doppler: three cases with the anterior cerebral artery crawling under the skull | Q80518719 |
| | The zebrafish forkhead transcription factor FoxH1/Fast1 is a modulator of nodal signaling required for organizer formation | Q38308228 |
| | Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities | Q38720465 |
| | Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology | Q38735488 |
| | Cyclopamine-induced holoprosencephaly and associated craniofacial malformations in the golden hamster: anatomic and molecular events | Q38955165 |
| | The Carter Neurocognitive Assessment for children with severely compromised expressive language and motor skills. | Q40439796 |
| | Neuroanatomy of holoprosencephaly as predictor of function: beyond the face predicting the brain | Q40628479 |
| | Holoprosencephaly in a fetal macaque (Macaca nemestrina) following weekly exposure to ethanol | Q41172320 |
| | Holoprosencephaly: molecular study of a California population | Q41724098 |
| | Regionalization of the prosencephalic neural plate. | Q41733317 |
| | Hydantoin syndrome with holoprosencephaly: a possible rare teratogenic effect | Q42288221 |
| | Dendritic overgrowth and alterations in laminar phenotypes of neocortical neurons in the newborn with semilobar holoprosencephaly | Q42435963 |
| | Sonic hedgehog participates in craniofacial morphogenesis and is down-regulated by teratogenic doses of retinoic acid | Q42548680 |
| | Unknown syndrome: holoprosencephaly, congenital heart defects, and polydactyly | Q42661138 |
| | The evolution of neurophysiological features in holoprosencephaly | Q43597387 |
| | Epidemiological analysis of outcomes of pregnancy in gestational diabetic mothers | Q44158750 |
| | Holoprosencephaly associated with diabetes insipidus and syndrome of inappropriate secretion of antidiuretic hormone | Q44437991 |
| | Neuropathological evaluation of the diencephalon, basal ganglia and upper brainstem in alobar holoprosencephaly | Q44699765 |
| | A novel mutation of the human 7-dehydrocholesterol reductase gene reduces enzyme activity in patients with holoprosencephaly | Q44794880 |
| | Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases | Q45159232 |
| | Holoprosencephaly: epidemiologic and clinical characteristics of a California population | Q46047771 |
| | Callosal agenesis with cyst: a better understanding and new classification | Q46148705 |
| | Descriptive epidemiology of holoprosencephaly and arhinencephaly in metropolitan Atlanta, 1968-1992. | Q46360105 |
| | Gestational exposure to lovastatin followed by cardiac malformation misclassified as holoprosencephaly | Q46575232 |
| | Electroencephalography in holoprosencephaly: findings in children without epilepsy | Q47617687 |
| | Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984-1989. | Q47636876 |
| | Holoprosencephaly: from Homer to Hedgehog | Q47964778 |
| | Teratogen-mediated inhibition of target tissue response to Shh signaling | Q48004971 |
| | Semilobar holoprosencephaly with midline 'seam': a topologic and morphogenetic model based upon MRI analysis | Q48146210 |
| | Holoprosencephaly: prenatal sonographic diagnosis | Q48189428 |
| | Cyclopia and congenital cytomegalovirus infection | Q48217524 |
| | Holoprosencephaly: a paradigm for the complex genetics of brain development | Q48400659 |
| | Dorsal third ventricular cyst: an entity distinct from holoprosencephaly | Q48419991 |
| | MRI shows abnormal white matter maturation in classical holoprosencephaly | Q48420182 |
| | Middle interhemispheric variant of holoprosencephaly: a distinct cliniconeuroradiologic subtype | Q48420222 |
| | Holoprosencephaly: the face predicts the brain; the image predicts its function | Q48420230 |
| | MR imaging of fetal cerebral anomalies | Q48445463 |
| | Holoprosencephaly in children: diffusion tensor MR imaging of white matter tracts of the brainstem--initial experience | Q48593692 |
| | Unusual variant of holoprosencephaly in monosomy 13q. | Q48652258 |
| | Alobar holoprosencephaly: ultrasonographic prenatal diagnosis | Q48673631 |
| | Endocrinopathies associated with midline cerebral and cranial malformations | Q48677473 |
| | The dorsal cyst in holoprosencephaly and the role of the thalamus in its formation | Q48756603 |
| | Lobar holoprosencephaly: prenatal MR diagnosis with postnatal MR correlation | Q48917240 |
| | Alobar holoprosencephaly, diabetes insipidus and coloboma without craniofacial abnormalities: a case report | Q48955077 |
| | EEG IN HOLOPROSENCEPHALY (ARHINENCEPHALY). | Q51268863 |
| | Pathoarchitectonic studies of cerebral malformations. III. Arrhinencephalies (holotelencephalies). | Q51317805 |
| | Holoprosencephaly--topologic variations in a liveborn series: a general model based upon MRI analysis. | Q51996806 |
| | Phenotypic variability in human embryonic holoprosencephaly in the Kyoto Collection. | Q52087903 |
| | A retrospective survey of perinatal risk factors of 104 living children with holoprosencephaly. | Q52088997 |
| | The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. | Q52173272 |
| | Teratogenicity of low doses of all-trans retinoic acid in presomite mouse embryos. | Q52208261 |
| | Differential diagnosis in fetuses with absent septum pellucidum. | Q52561679 |
| P304 | page(s) | 13-37 | |
| P577 | publication date | 2008-01-01 | |
| P1433 | published in | Handbook of clinical neurology / edited by P.J. Vinken and G.W. Bruyn | Q26842295 |
| P1476 | title | Holoprosencephaly | |
| P478 | volume | 87 | |