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J.L. Serre

Observed names: J L Serre, J SERRE, J. L. Serre, J.-L. Serre, J.L Serre, J.L. (a, b) Serre
OpenAlex ID: A5111995260
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.
1993 · C Oudet, E Mornet, et al. · Europe PMC (PubMed Central) · 129
Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics
1990 · J.L. Serre, B. Simon-Bouy, et al. · Human Genetics · 101
Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia
2001 · A. Taillandier, A.S. Lia-Baldini, et al. · Human Mutation · 61
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Genetic Differences Between Cystic Fibrosis With and Without Meconium Ileus
1988 · E Mornet, J.L Serre, et al. · The Lancet · 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
2002 · F. Muller, B. Simon‐Bouy, et al. · American Journal of Medical Genetics · 58
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
2000 · A. Taillandier, E. Cozien, et al. · Human Mutation · 54
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
1999 · A. Taillandier, L. Zurutuza, et al. · Human Mutation · 49
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A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein
2008 · A. S. Lia-Baldini, I. Brun-Heath, et al. · Human Genetics · 43
Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case.
1998 · F Muller, M Dommergues, et al. · Journal of Medical Genetics · 38
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Childhood Hypophosphatasia Due to a de Novo Missense Mutation in the Tissue-Nonspecific Alkaline Phosphatase Gene
2005 · A. Taillandier, S.-L. Sallinen, et al. · The Journal of Clinical Endocrinology & Metabolism · 30
Genetic heterogeneity between two clinical forms of cystic fibrosis evidenced by familial analysis and linked DNA probes
1989 · E. Mornet, B. Simon‐Bouy, et al. · Clinical Genetics · 14
Transition from Normal to Premutated Alleles in Fragile X Syndrome Results from a Multistep Process
1994 · M. Montagnon, A. Bogyo, et al. · European Journal of Human Genetics · 12
Does anonymous sperm donation increase the risk for unions between relatives and the incidence of autosomal recessive diseases due to consanguinity?
2013 · J.-L. Serre, A.-L. Leutenegger, et al. · Human Reproduction · 10
Nearly 80% of cystic fibrosis heterozygotes and 64% of couples at risk may be detected through a unique screening of four mutations by ASO reverse dot blot
1991 · J.L. Serre, A. Taillandier, et al. · Genomics · 9
The Fragile X CGG Repeat Shows a Marked Level of Instability in Hereditary Non-Polyposis Colorectal Cancer Patients
1997 · M.C. Fulchignoni-Lataud, S. Olchwang, et al. · European Journal of Human Genetics · 8
Nine mutations in the cystic fibrosis (CF) gene account for 80% of the CF chromosomes in French patients
1991 · B. Simon‐Bouy, E. Mornet, et al. · Clinical Genetics · 8
The cystic fibrosis ΔF508 mutation in the French population
1990 · B. Simon-Bouy, E. Mornet, et al. · Human Genetics · 6
A polymorphic poly-A sequence in the 5? region of the aldosynthase (CYP11B2) gene may be useful in genetic diagnosis of 11?-hydroxylase genes defects
1994 · F. Clot, M. Jager, et al. · Human Genetics · 5
FRAXAC2 instability
1994 · E. Mornet, C. Chateau, et al. · Nature Genetics · 4
Social blending and genetical blending
1979 · J.L. Serre, P. Lefevre-Wittier · Journal of Human Evolution · 3
Le diagnostic prénatal n’est pas de l’eugénisme
2015 · B. Simon-Bouy, J.-L. Serre · Gynécologie Obstétrique & Fertilité · 2
General Cystic Fibrosis Mutations Are Usually Missense Mutations Affecting Two Specific Protein Domains and Associated with a Specific RFLP Marker Haplotype
1993 · J.L. (a, b) Serre, E. (b, c) Mornet, et al. · European Journal of Human Genetics · 2
Toward a Geographical History of the Predominant and Secondary Mutations in Europe
1991 · J. L. Serre · Advances in experimental medicine and biology · 1
Genotyping of the Spanish cystic fibrosis population at the ΔF508 mutation site and RFLP linked loci
1990 · B. Jaume-Roig, B. Simon-Bout, et al. · Human Genetics · 1
Analyse génétique d'une population présentant des anomalies de fréquence génique
1978 · J LEPETIT, C LEPETIT, et al. · Revue Fran&#xE7 aise de Transfusion et Immuno-h&#xE9 matologie · 1
Works count: 29
Citation count: 709
H-index: 12
I10-index: 13
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