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Holoprosencephaly

Orphanet journal of rare diseases, 2007-02, Vol.2 (1), p.8-8, Article 8

2007

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Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report

Pediatric dermatology, 2022-05, Vol.39 (3), p.434-437

2022

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Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report

Clinical genetics, 2024-06, Vol.105 (6), p.666-670

2024

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Recent advances in understanding inheritance of holoprosencephaly

American journal of medical genetics. Part C, Seminars in medical genetics, 2018-06, Vol.178 (2), p.258-269

2018

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Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

Nature genetics, 2008-11, Vol.40 (11), p.1348-1353

2008

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Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein

Brain (London, England : 1878), 2020-07, Vol.143 (7), p.2027-2038

2020

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Analysis of genotype-phenotype correlations in human holoprosencephaly

American journal of medical genetics. Part C, Seminars in medical genetics, 2010-02, Vol.154C (1), p.133-141

2010

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GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer‐Rokitansky‐Kuster‐Hauser syndrome

Clinical genetics, 2020-08, Vol.98 (2), p.126-137

2020

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Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy

Human genetics, 2024, Vol.143 (5), p.683-694

2024

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Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy

Molecular genetics and metabolism, 2012-07, Vol.106 (3), p.345-350

2012

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Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings

PloS one, 2015-02, Vol.10 (2), p.e0117418-e0117418

2015

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Impact of Sonic Hedgehog-dependent sphenoid bone defect on craniofacial growth

Clinical and experimental dental research, 2024-04, Vol.10 (2), p.e861-e861

2024

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Disrupted Hypothalamo-Pituitary Axis in Association With Reduced SHH Underlies the Pathogenesis of NOTCH-Deficiency

The journal of clinical endocrinology and metabolism, 2020-09, Vol.105 (9), p.e3183-e3196

2020

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Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome

Genetics in medicine, 2024-04, Vol.26 (4), p.101059-101059, Article 101059

2024

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Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders

Human genetics, 2019-04, Vol.138 (4), p.363-374

2019

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Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients

American journal of medical genetics. Part C, Seminars in medical genetics, 2010-02, Vol.154C (1), p.93-101

2010

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11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA

American journal of medical genetics. Part A, 2019-06, Vol.179 (6), p.993-1000

2019

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New findings for phenotype–genotype correlations in a large European series of holoprosencephaly cases

Journal of medical genetics, 2011-11, Vol.48 (11), p.752-760

2011

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A Robust and Fast/Multiplex Pharmacogenetics Assay to Simultaneously Analyze 17 Clinically Relevant Genetic Polymorphisms in CYP3A4 , CYP3A5 , CYP1A2 , CYP2C9 , CYP2C19 , CYP2D6 , ABCB1, and VKORC1 Genes

Pharmaceuticals (Basel, Switzerland), 2022-05, Vol.15 (5), p.637

2022

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Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

European journal of human genetics : EJHG, 2019-02, Vol.27 (2), p.278-290

2019

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Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans

Human genetics, 2009-05, Vol.125 (4), p.393-400

2009

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Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

Orphanet journal of rare diseases, 2011-03, Vol.6 (1), p.9-9

2011

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Holoprosencephaly

Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report

Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report

Recent advances in understanding inheritance of holoprosencephaly

Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein

Analysis of genotype-phenotype correlations in human holoprosencephaly

GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer‐Rokitansky‐Kuster‐Hauser syndrome

Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy

Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy

Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings

Impact of Sonic Hedgehog-dependent sphenoid bone defect on craniofacial growth

Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility

Disrupted Hypothalamo-Pituitary Axis in Association With Reduced SHH Underlies the Pathogenesis of NOTCH-Deficiency

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway

Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome

Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders

Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients

DNA methylation episignature in Gabriele-de Vries syndrome

11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA

New findings for phenotype–genotype correlations in a large European series of holoprosencephaly cases

A Robust and Fast/Multiplex Pharmacogenetics Assay to Simultaneously Analyze 17 Clinically Relevant Genetic Polymorphisms in CYP3A4 , CYP3A5 , CYP1A2 , CYP2C9 , CYP2C19 , CYP2D6 , ABCB1, and VKORC1 Genes

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans

Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

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