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Hirschsprung disease, associated syndromes and genetics: a review

Journal of Medical Genetics, 2008-01, Vol.45 (1), p.1-14

2008

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Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

Journal of medical genetics, 2011-12, Vol.48 (12), p.825-830

2011

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Lamin a Truncation in Hutchinson-Gilford Progeria

Science (American Association for the Advancement of Science), 2003-06, Vol.300 (5628), p.2055-2055

2003

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Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre

BJOG : an international journal of obstetrics and gynaecology, 2019-10, Vol.126 (11), p.1372-1379

2019

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Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations

Journal of Medical Genetics, 2014-07, Vol.51 (7), p.429-435

2014

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First homozygous large deletion in EDARADD gene associated with a severe form of anhidrotic ectodermal dysplasia

Journal of the European Academy of Dermatology and Venereology, 2019-02, Vol.33 (2), p.e55-e57

2019

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Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Journal of medical genetics, 2013-07, Vol.50 (7), p.463-472

2013

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Electro-clinical features in epileptic children with chromosome 15q duplication syndrome

Clinical neurophysiology, 2021-05, Vol.132 (5), p.1126-1137

2021

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Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

Journal of medical genetics, 2006-11, Vol.43 (11), p.843-849

2006

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Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)

Journal of medical genetics, 2005-07, Vol.42 (7), p.551-557

2005

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Correlation between severity and SMN protein level in spinal muscular atrophy

Nature genetics, 1997-07, Vol.16 (3), p.265-269

1997

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Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

Journal of medical genetics, 2010-12, Vol.47 (12), p.797-802

2010

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Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts

Clinical genetics, 2009-08, Vol.76 (2), p.188-194

2009

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EP17.13: Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations

Ultrasound in obstetrics & gynecology, 2017-09, Vol.50 (S1), p.341-341

2017

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Advances in genetics: what are the benefits for patients?

Journal of medical genetics, 2006-07, Vol.43 (7), p.555-556

Munnich, A

2006

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OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment

Clinical genetics, 2013-07, Vol.84 (1), p.86-90

2013

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A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

Journal of medical genetics, 2011-01, Vol.48 (1), p.16-23

2011

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In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

Journal of medical genetics, 2003-01, Vol.40 (1), p.34-36

2003

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A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome

Biochimica et biophysica acta, 2012-06, Vol.1822 (6), p.1062-1069

2012

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Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

Journal of medical genetics, 2006-03, Vol.43 (3), p.211-217

2006

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Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus

Human mutation, 2007-07, Vol.28 (7), p.703-709

2007

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Calcium signalling-dependent mitochondrial dysfunction and bioenergetics regulation in respiratory chain Complex II deficiency

Cell death and differentiation, 2010-12, Vol.17 (12), p.1855-1866

2010

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The EDAR370A allele attenuates the severity of hypohidrotic ectodermal dysplasia caused by EDA gene mutation

British journal of dermatology (1951), 2012-03, Vol.166 (3), p.678-681

2012

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Hirschsprung disease, associated syndromes and genetics: a review

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

Lamin a Truncation in Hutchinson-Gilford Progeria

Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre

Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations

First homozygous large deletion in EDARADD gene associated with a severe form of anhidrotic ectodermal dysplasia

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Electro-clinical features in epileptic children with chromosome 15q duplication syndrome

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)

Correlation between severity and SMN protein level in spinal muscular atrophy

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts

EP17.13: Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations

Advances in genetics: what are the benefits for patients?

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus

Calcium signalling-dependent mitochondrial dysfunction and bioenergetics regulation in respiratory chain Complex II deficiency

The EDAR370A allele attenuates the severity of hypohidrotic ectodermal dysplasia caused by EDA gene mutation

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