Pascal and Francis Bibliographic Databases

Help

Search results

Your search

kw.\*:("Disomia uniparental")

Document Type [dt]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Publication Year[py]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Discipline (document) [di]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Language

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Author Country

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Results 1 to 25 of 406

  • Page / 17
Export

Selection :

  • and

Case of stargardt disease caused by uniparental isodisomyFINGERT, John H; ELIASON, David A; PHILLIPS, Nicole C et al.Archives of ophthalmology (1960). 2006, Vol 124, Num 5, pp 744-745, issn 0003-9950, 2 p.Article

Genomic imprinting, uniparental disomy and foetal growthPREECE, M. A; MOORE, G. E.Trends in endocrinology and metabolism. 2000, Vol 11, Num 7, pp 270-275, issn 1043-2760Article

Acquired Uniparental Disomy in Myeloproliferative NeoplasmsSCORE, Joannah; CROSS, Nicholas C. P.Hematology/oncology clinics of North America. 2012, Vol 26, Num 5, issn 0889-8588, vii, 981-991 [12 p.]Article

Pathogenesis and Consequences of Uniparental Disomy in CancerMAKISHIMA, Hideki; MACIEJEWSKI, Jaroslaw P.Clinical cancer research (Print). 2011, Vol 17, Num 12, pp 3913-3923, issn 1078-0432, 11 p.Article

CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter)SCHOLLEN, E; GRÜNEWALD, S; KELDERMANS, L et al.European journal of medical genetics. 2005, Vol 48, Num 2, pp 153-158, issn 1769-7212, 6 p.Article

Global analysis of uniparental disomy using high density genotyping arraysBRUCE, S; LEINONEN, R; LINDGREN, C. M et al.Journal of medical genetics. 2005, Vol 42, Num 11, pp 847-851, issn 0022-2593, 5 p.Article

Supernumerary small marker chromosome (SMC) and uniparental disomy 22 in a child with confined placental mosaicism of trisomy 22: Trisomy rescue due to marker chromosome formationBARRELS, I; SCHLUETER, G; LIEHR, T et al.Cytogenetic and genome research. 2003, Vol 101, Num 2, pp 103-105, issn 1424-8581, 3 p.Article

Confined placental mosaicismKALOUSEK, D. K; VEKEMANS, M.Journal of medical genetics. 1996, Vol 33, Num 7, pp 529-533, issn 0022-2593Article

Complete paternal uniparental isodisomy for Chromosome 2 revealed in a parentage testing caseXUELING OU; CHAO LIU; SUQIN CHEN et al.Transfusion (Philadelphia, PA). 2013, Vol 53, Num 6, pp 1266-1269, issn 0041-1132, 4 p.Article

Complex and segmental uniparental disomy updatedKOTZOT, D.Journal of medical genetics. 2008, Vol 45, Num 9, pp 545-556, issn 0022-2593, 12 p.Article

Maternal uniparental disomy chromosome 14: Case report and literature reviewFALK, Marni J; CURTIS, Christine A; BASS, Nancy E et al.Pediatric neurology. 2005, Vol 32, Num 2, pp 116-120, issn 0887-8994, 5 p.Article

Advanced parental age in maternal uniparental disomy (UPD): implications for the mechanism of formationKOTZOT, Dieter.European journal of human genetics. 2004, Vol 12, Num 5, pp 343-346, issn 1018-4813, 4 p.Article

Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: An Italian multicentric prenatal surveySENSI, A; CAVANI, S; SAVIN, E et al.Prenatal diagnosis. 2004, Vol 24, Num 8, pp 647-652, issn 0197-3851, 6 p.Article

Sex ratio and absence of uniparental disomy in spontaneous abortions with a normal karyotypeSMITH, M. J; CREASY, M. R; CLARKE, A et al.Clinical genetics. 1998, Vol 53, Num 4, pp 258-261, issn 0009-9163Article

Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetesWHITEFORD, M. L; NARENDRA, A; WHITE, M. P et al.Journal of medical genetics. 1997, Vol 34, Num 2, pp 167-168, issn 0022-2593Article

Pre- and postnatal findings in trisomy 17 mosaicismUTERMANN, Barbara; RIEGEL, Mariluce; TARALCZAK, Malgorzata et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 15, pp 1628-1636, issn 1552-4825, 9 p.Article

Genome-wide single nucleotide polymorphism analysis reveals frequent partial uniparental disomy due to somatic recombination in acute myeloid leukemiasRAGHAVAN, Manoj; LILLINGTON, Debra M; SKOULAKIS, Spyros et al.Cancer research (Baltimore). 2005, Vol 65, Num 2, pp 375-378, issn 0008-5472, 4 p.Article

A case of autism and uniparental disomy of chromosome 1WASSINK, Thomas H; LOSH, Molly; FRANTZ, Rebecca S et al.Human genetics. 2005, Vol 117, Num 2-3, pp 200-206, issn 0340-6717, 7 p.Article

Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studiesESTOP, A. M; CIEPLY, K; MUNNE, S et al.Human genetics. 2000, Vol 106, Num 5, pp 517-524, issn 0340-6717Article

Incidence of chromosome 1 disomy in human sperm estimated by the primed in situ (PRINS) labeling techniquePELLESTOR, F; GIRARDET, A; ANDREO, B et al.Cytogenetics and cell genetics. 1997, Vol 76, Num 3-4, pp 192-195, issn 0301-0171Article

Prenatal Findings of Paternal Uniparental Disomy 14: Report of Four PatientsYAMANAKA, Michiko; ISHIKAWA, Hiroshi; SAITO, Keisuke et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 3, pp 789-791, issn 1552-4825, 3 p.Article

Growth parameters in maternal uniparental disomy 7 and 14KOTZOT, Dieter.European journal of pediatrics. 2007, Vol 166, Num 11, pp 1143-1149, issn 0340-6199, 7 p.Article

Segmental uniparental isodisomy on 5q32-qter in a patient with childhood-onset schizophreniaSEAL, J. L; GORNICK, M. C; NELSON, S. F et al.Journal of medical genetics. 2006, Vol 43, Num 11, pp 887-892, issn 0022-2593, 6 p.Article

Uniparental disomy (UPD) other than 15 : Phenotypes and bibliography updatedKOTZOT, Dieter; UTERMANN, Gerd.American journal of medical genetics. 2005, Vol 136A, Num 3, pp 287-305, issn 0148-7299, 19 p.Article

Disomies uniparentales = Uniparental disomyLYONNET, Stanislas.Rééducation orthophonique. 2001, Vol 39, Num 205, pp 21-24, issn 0034-222XArticle

  • Page / 17