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Fetal phenotypes in otopalatodigital spectrum disorders

Clinical genetics, 2016-03, Vol.89 (3), p.371-377

2016

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Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

Journal of neurology, neurosurgery and psychiatry, 2009-12, Vol.80 (12), p.1394-1398

2009

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Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome

Journal of medical genetics, 2002-06, Vol.39 (6), p.415-421

2002

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Refined localisation of the voltage-gated chloride channel, CLCN3, to 4q33

Human genetics, 1998-02, Vol.102 (2), p.178-181

1998

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Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC

Neurobiology of disease, 2017-02, Vol.98, p.36-51

2017

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Reduction plasty for hypertrophic anterior cruciate ligament mucoid degeneration: Clinical and knee laxity outcomes in 23 cases

Orthopaedics & traumatology, surgery & research, 2013-10, Vol.99 (6), p.693-697

2013

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A mutation in the 3′-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia

Human molecular genetics, 2010-05, Vol.19 (10), p.2015-2027

2010

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Texture analysis of trabecular bone around RM-Pressfit cementless acetabulum in a series of 46 patients during a 5 year period

Orthopaedics & traumatology, surgery & research, 2019-11, Vol.105 (7), p.1283-1287

2019

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A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A

Human molecular genetics, 2012-03, Vol.21 (5), p.1004-1017

2012

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Do graft diameter or patient age influence the results of ACL reconstruction?

Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA, 2016-09, Vol.24 (9), p.2998-3004

2016

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Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome

Blood, 2011-11, Vol.118 (22), p.5928-5937

2011

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Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation

Human molecular genetics, 2017-02, Vol.26 (4), p.674-685

2017

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New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

Annals of neurology, 2015-12, Vol.78 (6), p.871-886

2015

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Heterogeneity of platelet functional alterations in patients with filamin A mutations

Arteriosclerosis, thrombosis, and vascular biology, 2013-01, Vol.33 (1), p.e11

2013

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COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke

Annals of neurology, 2007-08, Vol.62 (2), p.177-184

2007

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A randomized study assessing the systematic search for maxillary sinusitis in nasotracheally mechanically ventilated patients : Influence of nosocomial maxillary sinusitis on the occurrence of ventilator-associated pneumonia

American journal of respiratory and critical care medicine, 1999-03, Vol.159 (3), p.695-701

1999

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Wandering spleen in children: multicenter retrospective study

Journal of pediatric surgery, 2010-07, Vol.45 (7), p.1519-1524

2010

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Influence of long-term oro- or nasotracheal intubation on nosocomial maxillary sinusitis and pneumonia: Results of a prospective, randomized, clinical trial

Critical care medicine, 1993-08, Vol.21 (8), p.1132-1138

1993

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Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR

Human mutation, 2004-03, Vol.23 (3), p.278-284

2004

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Atypical male and female presentations of FLNA -related periventricular nodular heterotopia

European journal of medical genetics, 2012-05, Vol.55 (5), p.313-318

2012

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Detection of an Intragenic Deletion Expands the Spectrum of CTSC Mutations in Papillon–Lefèvre Syndrome

Journal of investigative dermatology, 2008-02, Vol.128 (2), p.322-325

2008

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Ophthalmological features associated with COL4A1 mutations

Archives of ophthalmology (1960), 2010-04, Vol.128 (4), p.483

2010

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X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

American journal of medical genetics. Part A, 2005-08, Vol.136A (4), p.307-312

2005

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Fetal phenotypes in otopalatodigital spectrum disorders

Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome

Refined localisation of the voltage-gated chloride channel, CLCN3, to 4q33

Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC

Reduction plasty for hypertrophic anterior cruciate ligament mucoid degeneration: Clinical and knee laxity outcomes in 23 cases

A mutation in the 3′-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia

Texture analysis of trabecular bone around RM-Pressfit cementless acetabulum in a series of 46 patients during a 5 year period

A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A

Do graft diameter or patient age influence the results of ACL reconstruction?

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome

Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

Heterogeneity of platelet functional alterations in patients with filamin A mutations

COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke

REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

A randomized study assessing the systematic search for maxillary sinusitis in nasotracheally mechanically ventilated patients : Influence of nosocomial maxillary sinusitis on the occurrence of ventilator-associated pneumonia

Wandering spleen in children: multicenter retrospective study

Influence of long-term oro- or nasotracheal intubation on nosocomial maxillary sinusitis and pneumonia: Results of a prospective, randomized, clinical trial

Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR

Atypical male and female presentations of FLNA -related periventricular nodular heterotopia

Detection of an Intragenic Deletion Expands the Spectrum of CTSC Mutations in Papillon–Lefèvre Syndrome

Ophthalmological features associated with COL4A1 mutations

X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

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