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Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders.
- Published in:
- Human Genetics, 2019, v. 138, n. 4, p. 363, doi. 10.1007/s00439-019-01993-y
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- Publication type:
- Article
Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes.
- Published in:
- Human Genetics, 2006, v. 119, n. 1/2, p. 1, doi. 10.1007/s00439-005-0097-6
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- Publication type:
- Article
Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 131, doi. 10.1007/s00439-002-0862-8
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- Publication type:
- Article
Identification of 96 single nucleotide polymorphisms in eight genes involved in iron metabolism: efficiency of bioinformatic extraction compared with a systematic sequencing approach.
- Published in:
- Human Genetics, 2001, v. 109, n. 4, p. 393, doi. 10.1007/s004390100599
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- Publication type:
- Article
GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer‐Rokitansky‐Kuster‐Hauser syndrome.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 2, p. 126, doi. 10.1111/cge.13769
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- Publication type:
- Article
Clinical utility gene card for: Holoprosencephaly.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 1, doi. 10.1038/ejhg.2010.110
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- Publication type:
- Article
Extending the Clinical Heterogeneity of Iodide Transport Defect (ITD): A Novel Mutation R124H of the Sodium/Iodide Symporter Gene and Review of Genotype-Phenotype Correlations in ITD.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 4, p. 1199, doi. 10.1210/jc.2005-1832
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- Publication type:
- Article
Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases.
- Published in:
- Acta Neuropathologica, 2009, v. 117, n. 2, p. 185, doi. 10.1007/s00401-008-0469-9
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- Publication type:
- Article
Disrupted Hypothalamo-Pituitary Axis in Association With Reduced SHH Underlies the Pathogenesis of NOTCH-Deficiency.
- Published in:
- 2020
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- Publication type:
- journal article
Polymorphisms in the HFE Gene.
- Published in:
- Human Heredity, 1999, v. 49, n. 1, p. 21, doi. 10.1159/000022835
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- Publication type:
- Article
Pharmacogenetic—Whole blood and intracellular pharmacokinetic—Pharmacodynamic (PG-PK<sup>2</sup>-PD) relationship of tacrolimus in liver transplant recipients.
- Published in:
- PLoS ONE, 2020, v. 15, n. 3, p. 1, doi. 10.1371/journal.pone.0230195
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- Publication type:
- Article
Dynamic expression of Notch-dependent neurogenic markers in the chick embryonic nervous system.
- Published in:
- Frontiers in Neuroanatomy, 2014, v. 8, p. 1, doi. 10.3389/fnana.2014.00158
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- Publication type:
- Article
Regulation of downstream neuronal genes by proneural transcription factors during initial neurogenesis in the vertebrate brain.
- Published in:
- Neural Development, 2016, v. 11, p. 1, doi. 10.1186/s13064-016-0077-7
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- Publication type:
- Article
Novel genes upregulated when NOTCH signalling is disrupted during hypothalamic development.
- Published in:
- Neural Development, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1749-8104-8-25
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- Publication type:
- Article
NOTCH, a new signaling pathway implicated in holoprosencephaly.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 6, p. 1122, doi. 10.1093/hmg/ddq556
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- Publication type:
- Article
Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings.
- Published in:
- PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0117418
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- Publication type:
- Article
Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results.
- Published in:
- Nature Genetics, 1999, v. 23, n. 3, p. 271, doi. 10.1038/15452
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- Publication type:
- Article
Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 791, doi. 10.1093/hmg/10.8.791
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- Publication type:
- Article
Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 8, p. 791, doi. 10.1093/hmg/10.8.791
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- Publication type:
- Article
Localization of seven new genes around the HLA-A locus.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 1, p. 55
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- Publication type:
- Article
Recent advances in understanding inheritance of holoprosencephaly.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 2, p. 258, doi. 10.1002/ajmg.c.31619
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- Publication type:
- Article
Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Ferroportin Diseases: Functional Studies, a Link Between Genetic and Clinical Phenotype.
- Published in:
- Human Mutation, 2013, v. 34, n. 11, p. 1529, doi. 10.1002/humu.22396
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- Publication type:
- Article
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
- Published in:
- Human Mutation, 2009, v. 30, n. 10, p. E921, doi. 10.1002/humu.21090
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- Publication type:
- Article
MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly.
- Published in:
- Human Mutation, 2007, v. 28, n. 12, p. 1189, doi. 10.1002/humu.20594
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- Publication type:
- Article
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.
- Published in:
- Human Mutation, 2004, v. 24, n. 1, p. 43, doi. 10.1002/humu.20056
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- Publication type:
- Article
Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure.
- Published in:
- Human Mutation, 1999, v. 13, n. 2, p. 173, doi. 10.1002/(SICI)1098-1004(1999)13:2<173::AID-HUMU21>3.0.CO;2-0
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- Publication type:
- Article
Impact of Sonic Hedgehog‐dependent sphenoid bone defect on craniofacial growth.
- Published in:
- Clinical & Experimental Dental Research, 2024, v. 10, n. 2, p. 1, doi. 10.1002/cre2.861
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- Publication type:
- Article
5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 725, doi. 10.1002/ajmg.a.33758
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- Publication type:
- Article
Holoprosencephaly.
- Published in:
- Orphanet Journal of Rare Diseases, 2007, v. 2, p. 8, doi. 10.1186/1750-1172-2-8
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- Publication type:
- Article
PharmFrag: An Easy and Fast Multiplex Pharmacogenetics Assay to Simultaneously Analyze 9 Genetic Polymorphisms Involved in Response Variability of Anticancer Drugs.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 24, p. 9650, doi. 10.3390/ijms21249650
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- Publication type:
- Article
Du cyclope à la réalité: Un nouveau regard sur la génétique de l'holoprosencéphalie.
- Published in:
- Médecine Sciences, 2017, v. 33, n. 11, p. 924, doi. 10.1051/medsci/20173311003
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- Publication type:
- Article
Circadian variations of transferrin saturation levels in iron-overloaded patients: implications for the screening of C282Y-linked haemochromatosis.
- Published in:
- British Journal of Haematology, 2003, v. 120, n. 2, p. 359, doi. 10.1046/j.1365-2141.2003.04070.x
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- Publication type:
- Article
Gender-specific phenotypic expression and screening strategies in C282Y-linked haemochromatosis: a study of 9396 French people.
- Published in:
- British Journal of Haematology, 2002, v. 118, n. 4, p. 1170, doi. 10.1046/j.1365-2141.2002.03718.x
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- Publication type:
- Article