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Page 1
Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome.
Donadille B, D'Anella P, Auclair M, Uhrhammer N, Sorel M, Grigorescu R, Ouzounian S, Cambonie G, Boulot P, Laforêt P, Carbonne B, Christin-Maitre S, Bignon YJ, Vigouroux C. Donadille B, et al. Among authors: carbonne b. Orphanet J Rare Dis. 2013 Jul 12;8:106. doi: 10.1186/1750-1172-8-106. Orphanet J Rare Dis. 2013. PMID: 23849162 Free PMC article.
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.
Quélin C, Loget P, Verloes A, Bazin A, Bessières B, Laquerrière A, Patrier S, Grigorescu R, Encha-Razavi F, Delahaye S, Jouannic JM, Carbonne B, D'Hervé D, Aubry MC, Macé G, Harvey T, Ville Y, Viot G, Joyé N, Odent S, Attié-Bitach T, Wolf C, Chevy F, Benlian P, Gonzales M. Quélin C, et al. Among authors: carbonne b. Eur J Med Genet. 2012 Feb;55(2):81-90. doi: 10.1016/j.ejmg.2011.12.002. Epub 2011 Dec 22. Eur J Med Genet. 2012. PMID: 22226660 Free article.
Mortality and significant neurosensory impairment in preterm infants: an international comparison.
Chevallier M, Debillon T, Darlow BA, Synnes AR, Pierrat V, Hurrion E, Yang J, Ego A, Ancel PY, Lui K, Shah PS, Luu TM; Australian and New Zealand Neonatal Network (ANZNN); Canadian Neonatal Network (CNN); Canadian Neonatal Follow-Up Network (CNFUN); Etude Epidémiologique sur les Petits Ages Gestationnels (EPIPAGE-2) Investigators. Chevallier M, et al. Arch Dis Child Fetal Neonatal Ed. 2022 May;107(3):317-323. doi: 10.1136/archdischild-2021-322288. Epub 2021 Sep 11. Arch Dis Child Fetal Neonatal Ed. 2022. PMID: 34509987
Usefulness of fluorescence in situ hybridization for the diagnosis of Turner mosaic fetuses with small ring X chromosomes.
Siffroi JP, Dupuy O, Joye N, Le Bourhis C, Benzacken B, Portnoi M, Berkane N, Franco JC, Studer C, Carbonne B, Gonzales M, Bucourt M, Uzan S, Uzan M, Milliez J, Wolf JP, Taillemite J, Dadoune JP. Siffroi JP, et al. Among authors: carbonne b. Fetal Diagn Ther. 2000 Jul-Aug;15(4):229-33. doi: 10.1159/000021012. Fetal Diagn Ther. 2000. PMID: 10867485
224 results