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

Human mutation, 2016-12, Vol.37 (12), p.1329-1339

2016

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Local retinoic acid signaling directs emergence of the extraocular muscle functional unit

PLoS biology, 2020-11, Vol.18 (11), p.e3000902-e3000902

2020

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Evolutionary Conservation of the Early Axon Scaffold in the Vertebrate Brain

Developmental dynamics, 2015-10, Vol.244 (10), p.1202-1214

2015

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Retinoic acid-dependent eye morphogenesis is orchestrated by neural crest cells

Development (Cambridge), 2005-11, Vol.132 (21), p.4789-4800

2005

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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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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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A Newborn Lethal Defect Due to Inactivation of Retinaldehyde Dehydrogenase Type 3 Is Prevented by Maternal Retinoic Acid Treatment

Proceedings of the National Academy of Sciences - PNAS, 2003-11, Vol.100 (24), p.14036-14041

2003

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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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Retinoic acid receptors exhibit cell‐autonomous functions in cranial neural crest cells

Developmental dynamics, 2009-10, Vol.238 (10), p.2701-2711

2009

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Impairing retinoic acid signalling in the neural crest cells is sufficient to alter entire eye morphogenesis

Developmental biology, 2008-08, Vol.320 (1), p.140-148

2008

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Temporally controlled targeted somatic mutagenesis in embryonic surface ectoderm and fetal epidermal keratinocytes unveils two distinct developmental functions of BRG1 in limb morphogenesis and skin barrier formation

Development (Cambridge), 2005-10, Vol.132 (20), p.4533-4544

2005

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NOTCH, a new signaling pathway implicated in holoprosencephaly

Human molecular genetics, 2011-03, Vol.20 (6), p.1122-1131

2011

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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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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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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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Impaired Locomotion and Dopamine Signaling in Retinoid Receptor Mutant Mice

Science (American Association for the Advancement of Science), 1998-02, Vol.279 (5352), p.863-867

1998

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NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos

Disease models & mechanisms, 2013-03, Vol.6 (2), p.537-543

2013

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Conditional ablation of integrin alpha-6 in mouse epidermis leads to skin fragility and inflammation

European journal of cell biology, 2011-02, Vol.90 (2-3), p.270-277

2011

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A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis

Acta neuropathologica communications, 2018-10, Vol.6 (1), p.109-109, Article 109

2018

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Holoprosencephaly: An update on cytogenetic abnormalities

American journal of medical genetics. Part C, Seminars in medical genetics, 2010-02, Vol.154C (1), p.86-92

2010

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Regulation of downstream neuronal genes by proneural transcription factors during initial neurogenesis in the vertebrate brain

Neural development, 2016-12, Vol.11 (1), p.22-22, Article 22

2016

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Notch signaling and proneural genes work together to control the neural building blocks for the initial scaffold in the hypothalamus

Frontiers in neuroanatomy, 2014-12, Vol.8, p.140-140

2014

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Key roles of retinoic acid receptors alpha and beta in the patterning of the caudal hindbrain, pharyngeal arches and otocyst in the mouse

Development (Cambridge), 1999-11, Vol.126 (22), p.5051-5059

1999

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Interactive method for autonomous microsystem design

International journal on interactive design and manufacturing, 2010-02, Vol.4 (1), p.35-50

2010

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

Local retinoic acid signaling directs emergence of the extraocular muscle functional unit

Evolutionary Conservation of the Early Axon Scaffold in the Vertebrate Brain

Retinoic acid-dependent eye morphogenesis is orchestrated by neural crest cells

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

Recent advances in understanding inheritance of holoprosencephaly

A Newborn Lethal Defect Due to Inactivation of Retinaldehyde Dehydrogenase Type 3 Is Prevented by Maternal Retinoic Acid Treatment

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

Retinoic acid receptors exhibit cell‐autonomous functions in cranial neural crest cells

Impairing retinoic acid signalling in the neural crest cells is sufficient to alter entire eye morphogenesis

Temporally controlled targeted somatic mutagenesis in embryonic surface ectoderm and fetal epidermal keratinocytes unveils two distinct developmental functions of BRG1 in limb morphogenesis and skin barrier formation

NOTCH, a new signaling pathway implicated in holoprosencephaly

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

Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings

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

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

Impaired Locomotion and Dopamine Signaling in Retinoid Receptor Mutant Mice

NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos

Conditional ablation of integrin alpha-6 in mouse epidermis leads to skin fragility and inflammation

A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis

Holoprosencephaly: An update on cytogenetic abnormalities

Regulation of downstream neuronal genes by proneural transcription factors during initial neurogenesis in the vertebrate brain

Notch signaling and proneural genes work together to control the neural building blocks for the initial scaffold in the hypothalamus

Key roles of retinoic acid receptors alpha and beta in the patterning of the caudal hindbrain, pharyngeal arches and otocyst in the mouse

Interactive method for autonomous microsystem design

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