206 related articles for article (PubMed ID: 18822396)
21. Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties.
Geneviève D; Sanlaville D; Faivre L; Kottler ML; Jambou M; Gosset P; Boustani-Samara D; Pinto G; Ozilou C; Abeguilé G; Munnich A; Romana S; Raoul O; Cormier-Daire V; Vekemans M
Eur J Hum Genet; 2005 Sep; 13(9):1033-9. PubMed ID: 15915160
[TBL] [Abstract][Full Text] [Related]
22. Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH).
Maas NM; Van Buggenhout G; Hannes F; Thienpont B; Sanlaville D; Kok K; Midro A; Andrieux J; Anderlid BM; Schoumans J; Hordijk R; Devriendt K; Fryns JP; Vermeesch JR
J Med Genet; 2008 Feb; 45(2):71-80. PubMed ID: 17873117
[TBL] [Abstract][Full Text] [Related]
23. A case with de novo interstitial deletion of chromosome 7q21.1-q22.
Manguoğlu E; Berker-Karaüzüm S; Baumer A; Mihçi E; Taçoy S; Lüleci G; Schinzel A
Genet Couns; 2005; 16(2):155-9. PubMed ID: 16080295
[TBL] [Abstract][Full Text] [Related]
24. Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms.
Lespinasse J; Gimelli S; Béna F; Antonarakis SE; Ansermet F; Paoloni-Giacobino A
Eur J Med Genet; 2009; 52(1):49-52. PubMed ID: 18992376
[TBL] [Abstract][Full Text] [Related]
25. Complex constitutional subtelomeric 1p36.3 deletion/duplication in a mentally retarded child with neonatal neuroblastoma.
Isidor B; Le Cunff M; Boceno M; Boisseau P; Thomas C; Rival JM; David A; Le Caignec C
Eur J Med Genet; 2008; 51(6):679-84. PubMed ID: 18672103
[TBL] [Abstract][Full Text] [Related]
26. Distal del(4) (q33) syndrome: detailed clinical presentation and molecular description with array-CGH.
Kitsiou-Tzeli S; Sismani C; Koumbaris G; Ioannides M; Kanavakis E; Kolialexi A; Mavrou A; Touliatou V; Patsalis PC
Eur J Med Genet; 2008; 51(1):61-7. PubMed ID: 17998173
[TBL] [Abstract][Full Text] [Related]
27. Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida.
Gustavsson P; Schoumans J; Staaf J; Borg A; Nordenskjöld M; Annerén G
Eur J Med Genet; 2007; 50(3):237-41. PubMed ID: 17387046
[TBL] [Abstract][Full Text] [Related]
28. Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome.
Redon R; Baujat G; Sanlaville D; Le Merrer M; Vekemans M; Munnich A; Carter NP; Cormier-Daire V; Colleaux L
Eur J Hum Genet; 2006 Jun; 14(6):759-67. PubMed ID: 16570072
[TBL] [Abstract][Full Text] [Related]
29. Cerebellar dysgenesis and mental retardation associated with a complex chromosome rearrangement.
Maserati E; Verri A; Seghezzi L; Tupler R; Federico A; Tiepolo L; Maraschio P
Ann Genet; 1999; 42(4):210-4. PubMed ID: 10674160
[TBL] [Abstract][Full Text] [Related]
30. An adult patient with a distal interstitial 14q deletion: clinical report and literature review.
Spruijt L; Van Der Blij-Philipsen M; Engelen JJ; Schrander-Stumpel CT
Genet Couns; 2000; 11(4):335-40. PubMed ID: 11140410
[TBL] [Abstract][Full Text] [Related]
31. Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.
Haddad MR; Mignon-Ravix C; Cacciagli P; Mégarbané A; Villard L
Eur J Med Genet; 2009; 52(4):211-7. PubMed ID: 19379847
[TBL] [Abstract][Full Text] [Related]
32. Interstitial deletion of chromosome 2 region in a malformed infant.
Melnyk AR; Muraskas J
Am J Med Genet; 1993 Jan; 45(1):49-51. PubMed ID: 8418659
[TBL] [Abstract][Full Text] [Related]
33. Deletion 2p25.2: a cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH.
Lo-Castro A; Giana G; Fichera M; Castiglia L; Grillo L; Musumeci SA; Galasso C; Curatolo P
Eur J Med Genet; 2009; 52(1):67-70. PubMed ID: 18992374
[TBL] [Abstract][Full Text] [Related]
34. Proximal interstitial 1p36 deletion syndrome: the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2).
Shimojima K; Páez MT; Kurosawa K; Yamamoto T
Brain Dev; 2009 Sep; 31(8):629-33. PubMed ID: 18835671
[TBL] [Abstract][Full Text] [Related]
35. De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation.
Dutrannoy V; Klopocki E; Wei R; Bommer C; Mundlos S; Graul-Neumann LM; Trimborn M
Eur J Med Genet; 2009; 52(6):450-3. PubMed ID: 19576303
[TBL] [Abstract][Full Text] [Related]
36. Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: report of two cases and review of the literature.
Yamamoto K; Yoshihashi H; Furuya N; Adachi M; Ito S; Tanaka Y; Masuno M; Chiyo H; Kurosawa K
Congenit Anom (Kyoto); 2009 Mar; 49(1):8-14. PubMed ID: 19243411
[TBL] [Abstract][Full Text] [Related]
37. 19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation.
Malan V; Raoul O; Firth HV; Royer G; Turleau C; Bernheim A; Willatt L; Munnich A; Vekemans M; Lyonnet S; Cormier-Daire V; Colleaux L
J Med Genet; 2009 Sep; 46(9):635-40. PubMed ID: 19126570
[TBL] [Abstract][Full Text] [Related]
38. Array-CGH detection of a de novo 0.8Mb deletion in 19q13.32 associated with mental retardation, cardiac malformation, cleft lip and palate, hearing loss and multiple dysmorphic features.
Leal T; Andrieux J; Duban-Bedu B; Bouquillon S; Brevière GM; Delobel B
Eur J Med Genet; 2009; 52(1):62-6. PubMed ID: 19022414
[TBL] [Abstract][Full Text] [Related]
39. Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-->qter.
Poot M; Eleveld MJ; van 't Slot R; van Genderen MM; Verrijn Stuart AA; Hochstenbach R; Beemer FA
Eur J Med Genet; 2007; 50(6):432-40. PubMed ID: 17931990
[TBL] [Abstract][Full Text] [Related]
40. Oligoarray (105K) CGH analysis of chromosome microdeletions within 10q22.1q24.32.
Reddy KS; Mardach R; Bass H
Cytogenet Genome Res; 2011; 132(1-2):113-20. PubMed ID: 20714122
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
