J.L. Serre - Concepedia

Author

J.L. Serre

Université de Versailles Saint-Quentin-en-Yvelines

Also Known As

J L Serre, J SERRE, J. L. Serre, J.-L. Serre, J.L Serre, J.L. (a, b) Serre, J.L. Serre

Publications

688

Citations

H-Index

Concepts

All Affiliations

Université de Versailles Saint-Quentin-en-Yvelines Inserm Laboratoire de Génétique Cellulaire Hôpital Ambroise-Paré Centre Hospitalier Universitaire de Lille

About

J.L. Serre is an author at Université de Versailles Saint-Quentin-en-Yvelines specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	6	6	353
2	Public Health	1	1	56
3	Biology	1	1	43
4	Cell Biology	1	1	43
5	Cellular Physiology	1	1	43

J.L. Serre

Publications

639

Citations

H-Index

Page 1

	Year	Citations
Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes. C Oudet, Étienne Mornet, J.L. Serre, PubMed	1993	130
Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics J.L. Serre, Brigitte Simon‐Bouy, Étienne Mornet, Human Genetics Genetic TestingMendelian DisorderGenetic DisorderMedicineGenetics	1990	99
GENETIC DIFFERENCES BETWEEN CYSTIC FIBROSIS WITH AND WITHOUT MECONIUM ILEUS Étienne Mornet, J.L. Serre, Martin Farrall, The Lancet GeneticsGastroenterologyPathologyGastrointestinal PathologyMedicine	1988	61
Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia A. Taillandier, Anne-Sophie Lia-Baldini, M. Mouchard, Human Mutation	2001	60
Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: Results of a French molecular collaborative study based on 641 prospective cases Françoise Müller, Brigitte Simon‐Bouy, Emmanuelle Girodon, American Journal of Medical Genetics Obstetric ImagingFetal MedicineGastroenterologyPathologyGynecology	2002	56
Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia A. Taillandier, Laurence Zurutuza, Françoise Müller, Human Mutation GeneticsGenetic EpidemiologyPathologyOsteogenesisMolecular Genetics	1999	49
Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia A. Taillandier, E. Cozien, Françoise Müller, Human Mutation GeneticsPathologyOsteogenesisMolecular GeneticsDisease Gene Identification	2000	45
A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein Anne-Sophie Lia-Baldini, Isabelle Brun‐Heath, Claire Carrion, Human Genetics BiologyProtein FunctionCell DivisionGeneticsPathogenesis	2008	43
Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case. Françoise Müller, Marc Dommergues, Brigitte Simon‐Bouy, Journal of Medical Genetics	1998	40
Childhood Hypophosphatasia Due to a de Novo Missense Mutation in the Tissue-Nonspecific Alkaline Phosphatase Gene A. Taillandier, Satu‐Leena Sallinen, Isabelle Brun‐Heath, The Journal of Clinical Endocrinology & Metabolism	2005	30

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