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Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency

The journal of clinical endocrinology and metabolism, 2016-12, Vol.101 (12), p.4541-4550

2016

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Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes

Acta neuropathologica, 2010-10, Vol.120 (4), p.503-515

2010

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Abnormal sodium current properties contribute to cardiac electrical and contractile dysfunction in a mouse model of myotonic dystrophy type 1

Neuromuscular disorders : NMD, 2015-04, Vol.25 (4), p.308-320

2015

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Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1

Archives of cardiovascular diseases, 2013-12, Vol.106 (12), p.635-643

2013

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Bilateral Frontoparietal Polymicrogyria

Indian journal of pediatrics, 2015-04, Vol.82 (4), p.390-391

2015

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The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

Brain (London, England : 1878), 2014-06, Vol.137 (Pt 6), p.1676-1700

2014

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Genetics and pathophysiology of mental retardation

European journal of human genetics : EJHG, 2006-06, Vol.14 (6), p.701-713

2006

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Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia

Nature genetics, 2016-11, Vol.48 (11), p.1349-1358

2016

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Combination of infantile spasms, non-epileptic seizures and complex movement disorder: A new case of ARX-related epilepsy

Epilepsy research, 2008-08, Vol.80 (2), p.224-228

2008

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GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

Brain (London, England : 1878), 2010-11, Vol.133 (11), p.3194-3209

2010

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Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

Human molecular genetics, 1995-08, Vol.4 (8), p.1381-1386

1995

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Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

European journal of human genetics : EJHG, 2013-04, Vol.21 (4), p.381-385

2013

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Cloning and characterization of the human V3 pituitary vasopressin receptor

FEBS letters, 1994-12, Vol.356 (2), p.215-220

1994

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Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene

Neuromuscular disorders : NMD, 2004, Vol.14 (1), p.10-18

2004

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Human disorders of cortical development: from past to present

The European journal of neuroscience, 2006-02, Vol.23 (4), p.877-893

2006

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Somatic Mutations of the β -catenin Gene are Frequent in Mouse and Human Hepatocellular Carcinomas

Proceedings of the National Academy of Sciences - PNAS, 1998-07, Vol.95 (15), p.8847-8851

1998

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A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome

Cell, 1998-01, Vol.92 (1), p.51-61

1998

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MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression

European journal of human genetics : EJHG, 2008-09, Vol.16 (9), p.1029-1037

2008

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A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

Nature genetics, 1999-09, Vol.23 (1), p.25-31

1999

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Parental origin of de novo MECP2 mutations in Rett syndrome

European journal of human genetics : EJHG, 2001-03, Vol.9 (3), p.231-236

2001

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Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

Nature genetics, 2009-06, Vol.41 (6), p.746-752

2009

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New insights into genotype―phenotype correlations for the doublecortin-related lissencephaly spectrum

Brain (London, England : 1878), 2013, Vol.136 (Pt 1), p.223-244

2013

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Sequential assessment of multidrug resistance phenotype and measurement of S‐phase fraction as predictive markers of breast cancer response to neoadjuvant chemotherapy

Cancer, 1996-01, Vol.77 (2), p.292-300

1996

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Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency

Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes

Abnormal sodium current properties contribute to cardiac electrical and contractile dysfunction in a mouse model of myotonic dystrophy type 1

Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1

Bilateral Frontoparietal Polymicrogyria

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

Genetics and pathophysiology of mental retardation

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia

Combination of infantile spasms, non-epileptic seizures and complex movement disorder: A new case of ARX-related epilepsy

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

Cloning and characterization of the human V3 pituitary vasopressin receptor

Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene

Human disorders of cortical development: from past to present

Somatic Mutations of the β -catenin Gene are Frequent in Mouse and Human Hepatocellular Carcinomas

A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium

A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

Parental origin of de novo MECP2 mutations in Rett syndrome

Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

New insights into genotype―phenotype correlations for the doublecortin-related lissencephaly spectrum

Sequential assessment of multidrug resistance phenotype and measurement of S‐phase fraction as predictive markers of breast cancer response to neoadjuvant chemotherapy

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