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Serge Lumbroso

Observed names: LUMBROSO S, LUMBROSO, Serge, Lumbroso S, Lumbroso Serge, Lumbroso, Serge, S Lumbroso, S. Lumbroso
Observed institutions: Université de Tours, Centre National de la Recherche Scientifique, Inserm, Institut Pasteur, Université de Montpellier, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Centre Hospitalier Universitaire de Besançon, Centre Hospitalier Universitaire de Montpellier, Centre Hospitalier Universitaire de Tours, Centre de Biologie Structurale, Hôpital Jeanne de Flandre, Centre Hospitalier Universitaire de Nîmes, Hôpital Lapeyronie, Institute for Neurosciences of Montpellier, Hôpital Saint Eloi, Hôpital Arnaud de Villeneuve, Institut de Génomique Fonctionnelle, Hospital General de Niños Ricardo Gutierrez, Université Montpellier 1, Université Pierre-et-Marie-Curie, Université de Nîmes, Université de Montréal, Charité - Universitätsmedizin Berlin
ORCID: 0000-0002-7373-5046
Observed ORCID: 0000-0002-7373-5046
OpenAlex ID: A5045707650
Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene
2018 · Aude Nicolas, Kevin P. Kenna, et al. · Neuron · 679
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Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
2014 · Claire S. Leblond, Caroline Nava, et al. · PLoS Genetics · 628
Activating Gsα Mutations: Analysis of 113 Patients with Signs of McCune-Albright Syndrome—A European Collaborative Study
2004 · Serge Lumbroso, Françoise Paris, et al. · The Journal of Clinical Endocrinology & Metabolism · 288
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
2014 · Claire Redin, Bénédicte Gérard, et al. · Journal of Medical Genetics · 263
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Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 Patients
2010 · Laurent Maimoun, Pascal Philibert, et al. · The Journal of Clinical Endocrinology & Metabolism · 216
Environmental xenoestrogens, antiandrogens and disorders of male sexual differentiation
2001 · Charles Sultan, Patrick Balaguer, et al. · Molecular and Cellular Endocrinology · 210
Androgen receptor gene mutation in male breast cancer
1993 · Jean-Marc Lobaccaro, Serge Lumbroso, et al. · Human Molecular Genetics · 135
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
2014 · Chizuru Akimoto, Alexander E Volk, et al. · Journal of Medical Genetics · 131
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Specific Recognition of Androgens by Their Nuclear Receptor
2000 · Nicolas Poujol, Jean-Marie Wurtz, et al. · Journal of Biological Chemistry · 122
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Androgen Insensitivity Syndrome: Somatic Mosaicism of the Androgen Receptor in Seven Families and Consequences for Sex Assignment and Genetic Counseling
2005 · Birgit Köhler, Serge Lumbroso, et al. · The Journal of Clinical Endocrinology & Metabolism · 117
Activating Mutations of the Stimulatory G Protein in Juvenile Ovarian Granulosa Cell Tumors: A New Prognostic Factor?
2006 · Nicolas Kalfa, Aude Ecochard, et al. · The Journal of Clinical Endocrinology & Metabolism · 115
Pregnane × Receptor (PXR) expression in colorectal cancer cells restricts irinotecan chemosensitivity through enhanced SN-38 glucuronidation
2010 · Caroline Raynal, Jean-Marc Pascussi, et al. · Molecular Cancer · 110
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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
2001 · I. Van Pottelbergh, S. Lumbroso, et al. · Clinical Endocrinology · 96
Male breast cancer and the androgen receptor gene
1993 · Jean-Marc Lobaccaro, Serge Lumbroso, et al. · Nature Genetics · 95
Mutations of androgen receptor gene in androgen insensitivity syndromes
1993 · Charles Sultan, Serge Lumbroso, et al. · The Journal of Steroid Biochemistry and Molecular Biology · 91
Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations
2012 · P. Corcia, P. Valdmanis, et al. · Neurology · 85
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis
2021 · Janel O. Johnson, Ruth Chia, et al. · JAMA Neurology · 82
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Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
2020 · Ramita Dewan, Ruth Chia, et al. · Neuron · 82
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Regulation of Brain Cholesterol: What Role Do Liver X Receptors Play in Neurodegenerative Diseases?
2019 · Kevin Mouzat, Aleksandra Chudinova, et al. · International Journal of Molecular Sciences · 79
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Testosterone Is Significantly Reduced in Endurance Athletes without Impact on Bone Mineral Density
2003 · L. Maïmoun, S. Lumbroso, et al. · Hormone Research in Paediatrics · 77
Ambiguous Genitalia in the Newborn
2002 · Charles Sultan, Françoise Paris, et al. · Seminars in Reproductive Medicine · 73
Macroorchidism due to Autonomous Hyperfunction of Sertoli Cells and Gsα Gene Mutation: An Unusual Expression of McCune-Albright Syndrome in a Prepubertal Boy
2001 · Régis Coutant, Serge Lumbroso, et al. · The Journal of Clinical Endocrinology & Metabolism · 68
Potential action of IGF-1 and EGF on androgen receptor nuclear transfer and transactivation in normal and cancer human prostate cell lines
2002 · Francesco Orio, Béatrice Térouanne, et al. · Molecular and Cellular Endocrinology · 66
Clinical relevance of nine transcriptional molecular markers for the diagnosis of head and neck squamous cell carcinoma in tissue and saliva rinse
2009 · Benjamin Lallemant, Alexandre Evrard, et al. · BMC Cancer · 64
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Molecular analysis of 5α‐reductase type 2 gene in eight unrelated egyptian children with suspected 5α‐reductase deficiency: prevalence of the G34R mutation
2003 · Inas Mazen, Yehia Z. Gad, et al. · Clinical Endocrinology · 64
Works count: 208
Citation count: 7,317
H-index: 43
I10-index: 109
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