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Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans

Human molecular genetics, 2012-04, Vol.21 (7), p.1496-1503

2012

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Genetics of human neural tube defects

Human molecular genetics, 2009-10, Vol.18 (R2), p.R113-R129

2009

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Increased expression of Grainyhead-like-3 rescues spina bifida in a folate-resistant mouse model

Human molecular genetics, 2007-11, Vol.16 (21), p.2640-2646

2007

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A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele

Human molecular genetics, 2023-08, Vol.32 (17), p.2681-2692

2023

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Investigating Genetic Determinants of Plasma Inositol Status in Adult Humans

The Journal of nutrition, 2022-11, Vol.152 (11), p.2333

2022

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Maternal Inositol Status and Neural Tube Defects: A Role for the Human Yolk Sac in Embryonic Inositol Delivery?

Advances in nutrition (Bethesda, Md.), 2021-01, Vol.12 (1), p.212-222

2021

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Investigating Genetic Determinants of Plasma Inositol Status in Adult Humans

The Journal of nutrition, 2022-11, Vol.152 (11), p.2333-2342

2022

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Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice

Human molecular genetics, 2018-12, Vol.27 (24), p.4218-4230

2018

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FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder

Brain (London, England : 1878), 2003-11, Vol.126 (11), p.2455-2462

2003

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The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

Human molecular genetics, 2007-01, Vol.16 (2), p.173-186

2007

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Gene–environment interactions in the causation of neural tube defects: folate deficiency increases susceptibility conferred by loss of Pax3 function

Human molecular genetics, 2008-12, Vol.17 (23), p.3675-3685

2008

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The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration

Human molecular genetics, 2006-05, Vol.15 (10), p.1659-1666

2006

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Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse

Human molecular genetics, 2003-01, Vol.12 (2), p.87-98

2003

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Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification

Human molecular genetics, 2001-10, Vol.10 (22), p.2593-2601

2001

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Planar cell polarity and the kidney

Nephrology, dialysis, transplantation, 2014-07, Vol.29 (7), p.1320-1326

2014

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Nucleotide precursors prevent folic acid-resistant neural tube defects in the mouse

Brain (London, England : 1878), 2013-09, Vol.136 (Pt 9), p.2836-2841

2013

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Over-expression of Grhl2 causes spina bifida in the Axial defects mutant mouse

Human molecular genetics, 2011-04, Vol.20 (8), p.1536-1546

2011

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Folic acid prevents exencephaly in Cited2 deficient mice

Human molecular genetics, 2002-02, Vol.11 (3), p.283-293

2002

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Abnormal folate metabolism in foetuses affected by neural tube defects

Brain (London, England : 1878), 2007-04, Vol.130 (4), p.1043-1049

2007

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Specific isoforms of protein kinase C are essential for prevention of folate-resistant neural tube defects by inositol

Human molecular genetics, 2004-01, Vol.13 (1), p.7-14

2004

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Split cervical spinal cord with Klippel—Feil syndrome: seven cases

Brain (London, England : 1878), 1996-12, Vol.119 (6), p.1859-1872

1996

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A genetic risk factor for mouse neural tube defects : defining the embryonic basis

Human molecular genetics, 2000-03, Vol.9 (4), p.575-581

2000

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D-chiro-inositol is more effective than myo-inositol in preventing folate-resistant mouse neural tube defects

Human reproduction (Oxford), 2002-09, Vol.17 (9), p.2451-2458

2002

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Neuronal Migration Defects in the Dreher (Lmx1a) Mutant Mouse: Role of Disorders of the Glial Limiting Membrane

Cerebral cortex (New York, N.Y. 1991), 2001-06, Vol.11 (6), p.498-505

2001

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Development of a lethal congenital heart defect in the splotch (Pax3) mutant mouse

Cardiovascular research, 1997-11, Vol.36 (2), p.163-173

1997

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Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans

Genetics of human neural tube defects

Increased expression of Grainyhead-like-3 rescues spina bifida in a folate-resistant mouse model

A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele

Investigating Genetic Determinants of Plasma Inositol Status in Adult Humans

Maternal Inositol Status and Neural Tube Defects: A Role for the Human Yolk Sac in Embryonic Inositol Delivery?

Investigating Genetic Determinants of Plasma Inositol Status in Adult Humans

Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice

FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

Gene–environment interactions in the causation of neural tube defects: folate deficiency increases susceptibility conferred by loss of Pax3 function

The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration

Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse

Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification

Planar cell polarity and the kidney

Nucleotide precursors prevent folic acid-resistant neural tube defects in the mouse

Over-expression of Grhl2 causes spina bifida in the Axial defects mutant mouse

Folic acid prevents exencephaly in Cited2 deficient mice

Abnormal folate metabolism in foetuses affected by neural tube defects

Specific isoforms of protein kinase C are essential for prevention of folate-resistant neural tube defects by inositol

Split cervical spinal cord with Klippel—Feil syndrome: seven cases

A genetic risk factor for mouse neural tube defects : defining the embryonic basis

D-chiro-inositol is more effective than myo-inositol in preventing folate-resistant mouse neural tube defects

Neuronal Migration Defects in the Dreher (Lmx1a) Mutant Mouse: Role of Disorders of the Glial Limiting Membrane

Development of a lethal congenital heart defect in the splotch (Pax3) mutant mouse

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