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Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases

American journal of neuroradiology : AJNR, 2018-09, Vol.39 (9), p.1657-1661

2018

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Pre-symptomatic diagnosis in ALS

Revue neurologique, 2020-03, Vol.176 (3), p.166-169

2020

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Accuracy of 18-Fluoro-2-deoxy-d-glucose Positron Emission Tomography in the Pretherapeutic Detection of Occult Para-aortic Node Involvement in Patients with a Locally Advanced Cervical Carcinoma

Annals of surgical oncology, 2011-08, Vol.18 (8), p.2302-2309

2011

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Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations

Neurology, 2012-05, Vol.78 (19), p.1519-1526

2012

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Fertility after high‐dose testosterone and intracytoplasmic sperm injection in a patient with androgen insensitivity syndrome with a previously unreported androgen receptor mutation

Andrologia, 2014-08, Vol.46 (6), p.703-706

2014

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Amyotrophic lateral sclerosis in Huntington disease gene carrier

Revue neurologique, 2017-12, Vol.173 (10), p.670-671

2017

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MiniSOX9, a dominant-negative variant in colon cancer cells

Oncogene, 2011-06, Vol.30 (22), p.2493-2503

2011

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Liver X Receptors and female reproduction: When cholesterol meets fertility

Journal of endocrinological investigation, 2013, Vol.36 (1), p.55-60

2013

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A new LH receptor splice mutation responsible for male hypogonadism with subnormal sperm production in the propositus, and infertility with regular cycles in an affected sister

Human reproduction (Oxford), 2008-08, Vol.23 (8), p.1917-1923

2008

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A novel autosomal dominant leukodystrophy with specific MRI pattern

Journal of neurology, 2015-04, Vol.262 (4), p.988-991

2015

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The IVS1- 2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency

Journal of endocrinological investigation, 2010-12, Vol.33 (11), p.810-814

2010

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Searching for somatic mutations in McCune-Albright syndrome: a comparative study of the peptidic nucleic acid versus the nested PCR method based on 148 DNA samples

European journal of endocrinology, 2006-12, Vol.155 (6), p.839-843

2006

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Optical Coherence Tomography Angiography of the Eye

1, 2018

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Lack of influence of the androgen receptor gene CAG-repeat polymorphism on sex steroid status and bone metabolism in elderly men

Clinical endocrinology (Oxford), 2001-11, Vol.55 (5), p.659-666

2001

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Testosterone is significantly reduced in endurance athletes without impact on bone mineral density

Hormone research, 2003-01, Vol.59 (6), p.285-292

2003

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P.38 Genetic variability of LXRbeta gene might contribute to preeclampsia

Thrombosis research, 2011, Vol.127, p.S138-S138

2011

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Mutant Luteinizing Hormone Receptors in a Compound Heterozygous Patient with Complete Leydig Cell Hypoplasia: Abnormal Processing Causes Signaling Deficiency

The journal of clinical endocrinology and metabolism, 2002-06, Vol.87 (6), p.2506-2513

2002

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Activating Gsα Mutations: Analysis of 113 Patients with Signs of McCune-Albright Syndrome—A European Collaborative Study

The journal of clinical endocrinology and metabolism, 2004-05, Vol.89 (5), p.2107-2113

2004

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The role of androgens or growth factors in the bone resorption process in recent spinal cord injured patients: a cross-sectional study

Spinal cord, 2006-12, Vol.44 (12), p.791-797

2006

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Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS

Journal of neurology, neurosurgery and psychiatry, 2023-11, Vol.95 (3), p.288-290

2023

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Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS

Journal of neurology, neurosurgery and psychiatry, 2023, Vol.95 (3), p.288-290

2023

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A new mutation of the androgen receptor, P817A, causing partial androgen insensitivity syndrome: in vitro and structural analysis

Journal of molecular endocrinology, 2004-06, Vol.32 (3), p.679-687

2004

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Description de la fréquence et du service d’hospitalisation des patients avec IRA sévère et DFGe inférieur à 30 ml/min/1,73m2 dans 3 hôpitaux d’un Département Francais

Néphrologie & thérapeutique, 2021-09, Vol.17 (5), p.384-385

2021

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Mutation of the androgen receptor (R840S) in an Egyptian patient with partial androgen insensitivity syndrome: review of the literature on the clinical expression of different R840 substitutions

Journal of endocrinological investigation, 2004-01, Vol.27 (1), p.57-60

2004

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A Novel Mutation of the 5α-Reductase Type 2 Gene in Two Unrelated Egyptian Children with Ambiguous Genitalia

Journal of Pediatric Endocrinology and Metabolism, 2003, Vol.16 (2)

2003

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Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases

Pre-symptomatic diagnosis in ALS

Accuracy of 18-Fluoro-2-deoxy-d-glucose Positron Emission Tomography in the Pretherapeutic Detection of Occult Para-aortic Node Involvement in Patients with a Locally Advanced Cervical Carcinoma

Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations

Fertility after high‐dose testosterone and intracytoplasmic sperm injection in a patient with androgen insensitivity syndrome with a previously unreported androgen receptor mutation

Amyotrophic lateral sclerosis in Huntington disease gene carrier

MiniSOX9, a dominant-negative variant in colon cancer cells

Liver X Receptors and female reproduction: When cholesterol meets fertility

A new LH receptor splice mutation responsible for male hypogonadism with subnormal sperm production in the propositus, and infertility with regular cycles in an affected sister

A novel autosomal dominant leukodystrophy with specific MRI pattern

The IVS1- 2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency

Searching for somatic mutations in McCune-Albright syndrome: a comparative study of the peptidic nucleic acid versus the nested PCR method based on 148 DNA samples

Optical Coherence Tomography Angiography of the Eye

Lack of influence of the androgen receptor gene CAG-repeat polymorphism on sex steroid status and bone metabolism in elderly men

Testosterone is significantly reduced in endurance athletes without impact on bone mineral density

P.38 Genetic variability of LXRbeta gene might contribute to preeclampsia

Mutant Luteinizing Hormone Receptors in a Compound Heterozygous Patient with Complete Leydig Cell Hypoplasia: Abnormal Processing Causes Signaling Deficiency

Activating Gsα Mutations: Analysis of 113 Patients with Signs of McCune-Albright Syndrome—A European Collaborative Study

The role of androgens or growth factors in the bone resorption process in recent spinal cord injured patients: a cross-sectional study

Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS

Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS

A new mutation of the androgen receptor, P817A, causing partial androgen insensitivity syndrome: in vitro and structural analysis

Description de la fréquence et du service d’hospitalisation des patients avec IRA sévère et DFGe inférieur à 30 ml/min/1,73m2 dans 3 hôpitaux d’un Département Francais

Mutation of the androgen receptor (R840S) in an Egyptian patient with partial androgen insensitivity syndrome: review of the literature on the clinical expression of different R840 substitutions

A Novel Mutation of the 5α-Reductase Type 2 Gene in Two Unrelated Egyptian Children with Ambiguous Genitalia

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