jo.\*:("Annales de génétique (Paris)")
Results 1 to 25 of 607
Selection :
A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic featuresAKCAR, Nevbahar; ADAPINAR, Baki; DINLEYICI, Cagri et al.Annales de génétique (Paris). 2004, Vol 47, Num 3, pp 261-265, issn 0003-3995, 5 p.Article
Consanguineous marriages in the province of Antalya, TurkeyALPER, Ö. M; ERENGIN, H; MANGUOGLU, A. E et al.Annales de génétique (Paris). 2004, Vol 47, Num 2, pp 129-138, issn 0003-3995, 10 p.Article
Large duplication 4q25-q34 with mild clinical effectELGHEZAL, Hatem; HALIMA SENNANA SENDI; MONASTIRI, Kamel et al.Annales de génétique (Paris). 2004, Vol 47, Num 4, pp 419-422, issn 0003-3995, 4 p.Article
Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemiaRECEVEUR, Aline; ONG, Jeanne; MERLIN, Laurent et al.Annales de génétique (Paris). 2004, Vol 47, Num 4, pp 423-427, issn 0003-3995, 5 p.Article
Y chromosome micro-deletions in idiopathic infertility from Northern IndiaRAMA DEVI MITTAL; SINGH, Gunjana; SRIVASTAVA, Aneesh et al.Annales de génétique (Paris). 2004, Vol 47, Num 4, pp 331-337, issn 0003-3995, 7 p.Article
Severe psychomotor retardation in a boy with a supernumerary derivative chromosome resulting in partial trisomy 21 and partial trisomy 7pAHLBOM, Bodil Edman; WAHLSTRÖM, Jan; SAALMAN, Robert et al.Annales de génétique (Paris). 2003, Vol 46, Num 1, pp 29-35, issn 0003-3995, 7 p.Article
Joint effect of G1691A factor V point mutation and factor VII Arg/Gln35,3 gene polymorphism on the risk of premature coronary artery diseasePETROVIC, Daniel; ZORC, M; KEBER, I et al.Annales de génétique (Paris). 2001, Vol 44, Num 1, pp 33-36, issn 0003-3995Article
Lipoprotein lipase (LPL) deficiency : a new patient homozygote for the preponderant mutation gly188glu in the human LPL gene and review of reported mutations : 75 % are clustered in exons 5 and 6GILBERT, Brigitte; ROUIS, Mustapha; GRIGLIO, Sabine et al.Annales de génétique (Paris). 2001, Vol 44, Num 1, pp 25-32, issn 0003-3995Article
Microdissection and reverse painting reveals a microdeletion 6(q26qter) in a de novo r(6) chromosomeBIRNBACHER, Robert; CHUDOBA, Ilse; PIRC-DANOEWINATA, Hendrati et al.Annales de génétique (Paris). 2001, Vol 44, Num 1, pp 13-18, issn 0003-3995Article
A rare case: mosaic trisomy 22BASARAN, Nurettin; BERKIL, Hakan; AY, Naim et al.Annales de génétique (Paris). 2001, Vol 44, Num 4, pp 183-186, issn 0003-3995Article
Contribution of ultrasonographic examination to the prenatal detection of chromosomal abnormalities in 19 centres across EuropeDE VIGAN, C; BAENA, N; CARIATI, E et al.Annales de génétique (Paris). 2001, Vol 44, Num 4, pp 209-217, issn 0003-3995Article
Improved characterization of FSHD mutationsYUZHOU ZHANG; FORNER, Julien; FOURNET, Sylvie et al.Annales de génétique (Paris). 2001, Vol 44, Num 2, pp 105-110, issn 0003-3995Article
Prenatal diagnosis of chromosome disorders in Tunisian populationCHAABOUNI, Habiba; CHAABOUNI, Myriam; OUESLATI, Bouiemaa et al.Annales de génétique (Paris). 2001, Vol 44, Num 2, pp 99-104, issn 0003-3995Article
Third European Cytogenetics Conference, Paris, France, July 7-10, 2001: Cytogenetics in the 21st CenturyAnnales de génétique (Paris). 2001, Vol 44, issn 0003-3995, 162 p., SUP1Conference Proceedings
The C677T polymorphism of the methylenetetrahydrofolate reductase gene in Mexican mestizo neural-tube defect parents, control mestizo and native populationsDAVALOS, Ingrid-Patricia; OLIVARES, Norma; CASTILLO, Maria-Teresa et al.Annales de génétique (Paris). 2000, Vol 43, Num 2, pp 89-92, issn 0003-3995Article
Unilateral bowing of long bones and multiple congenital anomalies in a child born to a mother with gestational diabetesCOURTENS, Winnie; DELAET, Corinne; ZIEREISEN, France et al.Annales de génétique (Paris). 2000, Vol 43, Num 2, pp 81-88, issn 0003-3995Article
Ring-20-syndrome and loss of telomeric regionsGARCIA-CRUZ, Diana; VASQUEZ, Ana Isabel; PEREZ-RULFO, Daniel et al.Annales de génétique (Paris). 2000, Vol 43, Num 3-4, pp 113-116, issn 0003-3995Article
An intracranial carcinoma in a Mexican woman with Bloom syndromeNUNO-ARANA, I; GARCIA-GARCIA, V. A; ESPEJO-PLASCENCIA, I et al.Annales de génétique (Paris). 2000, Vol 43, Num 1, pp 55-57, issn 0003-3995Article
Human TIP49b/RUVBL2 gene : genomic structure, expression pattern, physical link to the human CGB/LHB gene cluster on chromosome 19q13.3PARFAIT, Béatrice; GIOVANGRANDI, Yves; ASHEUER, Muriel et al.Annales de génétique (Paris). 2000, Vol 43, Num 2, pp 69-74, issn 0003-3995Article
Biparental expression of IGFBP1 and IGFBP3 renders their involvement in the etiology of Silver-Russell syndrome unlikelyEGGERMANN, K; WOLLMANN, H. A; BINDER, G et al.Annales de génétique (Paris). 1999, Vol 42, Num 2, pp 117-121, issn 0003-3995Article
Familial high myopia : Evidence of an autosomal dominant mode of inheritance and genetic heterogeneityNAIGLIN, L; CLAYTON, J; GAZAGNE, C et al.Annales de génétique (Paris). 1999, Vol 42, Num 3, pp 140-146, issn 0003-3995Conference Paper
Partial trisomy 4q and monosomy 9p resulting from a familial translocation t(4;9)(q27;p24) in a child with choanal atresiaWOUTERS, C. H; VAN BODEGOM, T. M; MOLL, H. A et al.Annales de génétique (Paris). 1999, Vol 42, Num 3, pp 160-165, issn 0003-3995Conference Paper
Molecular genetics of Von Willebrand diseaseMAZURIER, C; RIBBA, A. S; GAUCHER, C et al.Annales de génétique (Paris). 1998, Vol 41, Num 1, pp 34-43, issn 0003-3995Article
A case of de novo translocation 16;21 : Trisomy 16q phenotype and origin of the aberrationEGGERMANN, T; KOLIN-GERRESHEIM, I; GERRESHEIM, F et al.Annales de génétique (Paris). 1998, Vol 41, Num 4, pp 205-208, issn 0003-3995Conference Paper
Colloque de l'Association des Cytogénéticiens de Langue FrançaiseAnnales de génétique (Paris). 1998, Vol 41, Num 2, pp 118-128, issn 0003-3995Conference Proceedings