Jean‐Pierre Siffroi

Author

Jean‐Pierre Siffroi

Also Known As

D Gomes, J P Siffroi, J P Siffroi, J. P. Siffroi, J. Siffroi, J.-P. Siffroi, J.P Siffroi, J.P. Siffroi, Jean-Pierre Siffroi, Jean-pierre Siffroi

131

Publications

3.7K

Citations

H-Index

Concepts

All Affiliations

Sorbonne Université Assistance Publique – Hôpitaux de Paris Inserm Hôpital Armand-Trousseau Hôpital Tenon

About

Jean‐Pierre Siffroi is an author at Sorbonne Université specializing in medicine, genetics, and public health.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	24	33	2.3K
2	Public Health	15	15	1.2K
3	Natural Sciences	4	4	91
4	Biology	3	3	89
5	Health Sciences	2	2	112

Jean‐Pierre Siffroi

Publications

3.4K

Citations

H-Index

Page 1

	Year	Citations
In Vitro Fertilization May Increase the Risk of Beckwith-Wiedemann Syndrome Related to the Abnormal Imprinting of the KCNQ1OT Gene Christine Gicquel, Véronique Gaston, Jacqueline Mandelbaum, The American Journal of Human Genetics InfertilityDevelopmental BiologyFertilityGenetic DisorderGenetics	2003	514
Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1 Anu Bashamboo, Bruno Ferraz‐de‐Souza, Diana Lourenço, The American Journal of Human Genetics	2010	244
Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia Esther Kott, Philippe Duquesnoy, Bruno Copin, The American Journal of Human Genetics Developmental BiologyPathologyOuter Dynein ArmsCytoskeletonLoss-of-function Mutations	2012	188
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia Marjorie Whitfield, Lucie Thomas, Émilie Béquignon, The American Journal of Human Genetics InfertilityAndrologyFertilityGeneticsSperm Biology	2019	179
Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders Christel Depienne, Daniel Moreno‐De‐Luca, Delphine Héron, Biological Psychiatry Methylation AbnormalitiesAutism Spectrum DisordersMedicineGeneticsEpigenetic Change	2009	159
Connexin43 Gene Expression and Regulation in the Rodent Seminiferous Epithelium Catherine Batias, Jean‐Pierre Siffroi, Patrick Fénichel, Journal of Histochemistry & Cytochemistry SpermatogenesisGeneticsCx43 MrnaReproductive BiologyCx43 Gene Expression	2000	115
A High Frequency of Y Chromosome Deletions in Males with Nonidiopathic Infertility<sup>1</sup> Csilla Krausz, Lluís Quintana‐Murci, Sandrine Barbaux, The Journal of Clinical Endocrinology & Metabolism SpermatogenesisFertilityCytogeneticsGeneticsReproductive Health	1999	93
Tail stump syndrome associated with chromosomal translocation in two brothers attempting intracytoplasmic sperm injection Célia Ravel, Sandra Chantot‐Bastaraud, Jean‐Pierre Siffroi, Fertility and Sterility InfertilityDevelopmental BiologyFertilityChromosomal TranslocationGenetics	2006	83
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies Marie‐France Portnoï, Marie-Charlotte Dumargne, Sandra Rojo, Human Molecular Genetics	2018	82
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders Caroline Schluth‐Bolard, Flavie Diguet, Nicolas Chatron, Journal of Medical Genetics	2019	79

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