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Results: 1 to 20 of 207

1.

A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features.

Preiksaitiene E, Männik K, Dirse V, Utkus A, Ciuladaite Z, Kasnauskiene J, Kurg A, Kučinskas V.

Eur J Med Genet. 2012 Nov;55(11):656-9. doi: 10.1016/j.ejmg.2012.07.008. Epub 2012 Jul 27.

PMID:
22842074
[PubMed - indexed for MEDLINE]
2.

A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features.

Floor K, Barøy T, Misceo D, Kanavin OJ, Fannemel M, Frengen E.

Eur J Med Genet. 2012 Dec;55(12):695-9. doi: 10.1016/j.ejmg.2012.08.002. Epub 2012 Aug 30.

PMID:
22986108
[PubMed - indexed for MEDLINE]
3.

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.

Becker K, Di Donato N, Holder-Espinasse M, Andrieux J, Cuisset JM, Vallée L, Plessis G, Jean N, Delobel B, Thuresson AC, Annerén G, Ravn K, Tümer Z, Tinschert S, Schrock E, Jønch AE, Hackmann K.

Eur J Med Genet. 2012 Aug-Sep;55(8-9):490-7. doi: 10.1016/j.ejmg.2012.03.003. Epub 2012 Apr 12. Review.

PMID:
22561202
[PubMed - indexed for MEDLINE]
4.

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.

Zollino M, Orteschi D, Murdolo M, Lattante S, Battaglia D, Stefanini C, Mercuri E, Chiurazzi P, Neri G, Marangi G.

Nat Genet. 2012 Apr 29;44(6):636-8. doi: 10.1038/ng.2257.

PMID:
22544367
[PubMed - indexed for MEDLINE]
5.

Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15.

Hancarova M, Vejvalkova S, Trkova M, Drabova J, Dleskova A, Vlckova M, Sedlacek Z.

Gene. 2013 Mar 1;516(1):158-61. doi: 10.1016/j.gene.2012.12.027. Epub 2012 Dec 22.

PMID:
23266801
[PubMed - indexed for MEDLINE]
6.

Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.

Valetto A, Orsini A, Bertini V, Toschi B, Bonuccelli A, Simi F, Sammartino I, Taddeucci G, Simi P, Saggese G.

Eur J Med Genet. 2012 May;55(5):362-6. doi: 10.1016/j.ejmg.2012.03.011. Epub 2012 Apr 24.

PMID:
22548977
[PubMed - indexed for MEDLINE]
7.

17q21.31 microdeletion associated with infantile spasms.

Wray CD.

Eur J Med Genet. 2013 Jan;56(1):59-61. doi: 10.1016/j.ejmg.2012.10.011. Epub 2012 Oct 31.

PMID:
23123321
[PubMed - indexed for MEDLINE]
8.

A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism.

Jonsson DI, Ludvigsson P, Aradhya S, Sigurdardottir S, Steinarsdottir M, Hauksdottir H, Jonsson JJ.

Eur J Med Genet. 2012 Jun;55(6-7):437-40. doi: 10.1016/j.ejmg.2012.03.001. Epub 2012 Apr 2.

PMID:
22534424
[PubMed - indexed for MEDLINE]
9.

A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients.

Terrone G, D'Amico A, Imperati F, Carella M, Palumbo O, Gentile M, Canani RB, Melis D, Romano A, Parente I, Riccitelli M, Del Giudice E.

Eur J Med Genet. 2012 Aug-Sep;55(8-9):466-71. doi: 10.1016/j.ejmg.2012.04.010. Epub 2012 May 29.

PMID:
22659270
[PubMed - indexed for MEDLINE]
10.

Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.

Burkardt DD, Rosenfeld JA, Helgeson ML, Angle B, Banks V, Smith WE, Gripp KW, Moline J, Moran RT, Niyazov DM, Stevens CA, Zackai E, Lebel RR, Ashley DG, Kramer N, Lachman RS, Graham JM Jr.

Am J Med Genet A. 2011 Jun;155A(6):1336-51. doi: 10.1002/ajmg.a.34049. Epub 2011 May 5.

PMID:
21548129
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Microdeletion in distal 17p13.1: a recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability.

Zeesman S, Kjaergaard S, Hove HD, Kirchhoff M, Stevens JM, Nowaczyk MJ.

Am J Med Genet A. 2012 Aug;158A(8):1832-6. doi: 10.1002/ajmg.a.35508. Epub 2012 Jun 29.

PMID:
22753084
[PubMed - indexed for MEDLINE]
12.

A patient with de novo 0.45 Mb deletion of 2p16.1: the role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome.

Hancarova M, Simandlova M, Drabova J, Mannik K, Kurg A, Sedlacek Z.

Am J Med Genet A. 2013 Apr;161A(4):865-70. doi: 10.1002/ajmg.a.35783. Epub 2013 Mar 12.

PMID:
23495096
[PubMed - indexed for MEDLINE]
13.

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3.

Kuechler A, Buysse K, Clayton-Smith J, Le Caignec C, David A, Engels H, Kohlhase J, Mari F, Mortier G, Renieri A, Wieczorek D.

Am J Med Genet A. 2011 Aug;155A(8):1857-64. doi: 10.1002/ajmg.a.34072. Epub 2011 Jul 7.

PMID:
21739578
[PubMed - indexed for MEDLINE]
14.

A single gene deletion on 4q28.3: PCDH18--a new candidate gene for intellectual disability?

Kasnauskiene J, Ciuladaite Z, Preiksaitiene E, Matulevičienė A, Alexandrou A, Koumbaris G, Sismani C, Pepalytė I, Patsalis PC, Kučinskas V.

Eur J Med Genet. 2012 Apr;55(4):274-7. doi: 10.1016/j.ejmg.2012.02.010. Epub 2012 Mar 6.

PMID:
22450339
[PubMed - indexed for MEDLINE]
15.

A case of microdeletion of 19p13 with intellectual disability, hypertrichosis, synophrys, and protruding front teeth.

Jelsig AM, Brasch-Andersen C, Kibæk M, Fagerberg CR.

Eur J Med Genet. 2012 Oct;55(10):564-7. doi: 10.1016/j.ejmg.2012.06.009. Epub 2012 Jun 30.

PMID:
22750323
[PubMed - indexed for MEDLINE]
16.

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.

Papa FT, Mencarelli MA, Caselli R, Katzaki E, Sampieri K, Meloni I, Ariani F, Longo I, Maggio A, Balestri P, Grosso S, Farnetani MA, Berardi R, Mari F, Renieri A.

Am J Med Genet A. 2008 Aug 1;146A(15):1994-8. doi: 10.1002/ajmg.a.32413.

PMID:
18627055
[PubMed - indexed for MEDLINE]
17.

A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation.

Rooryck C, Burgelin I, Stef M, Taine L, Thambo JB, Lacombe D, Arveiler B.

Eur J Med Genet. 2008 Jan-Feb;51(1):74-80. Epub 2007 Oct 2.

PMID:
18024240
[PubMed - indexed for MEDLINE]
18.

A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient.

Varela MC, Krepischi-Santos AC, Paz JA, Knijnenburg J, Szuhai K, Rosenberg C, Koiffmann CP.

Cytogenet Genome Res. 2006;114(1):89-92.

PMID:
16717456
[PubMed - indexed for MEDLINE]
19.

Molecular and clinical delineation of the 17q22 microdeletion phenotype.

Laurell T, Lundin J, Anderlid BM, Gorski JL, Grigelioniene G, Knight SJ, Krepischi AC, Nordenskjöld A, Price SM, Rosenberg C, Turnpenny PD, Vianna-Morgante AM, Nordgren A.

Eur J Hum Genet. 2013 Oct;21(10):1085-92. doi: 10.1038/ejhg.2012.306. Epub 2013 Jan 30.

PMID:
23361222
[PubMed - indexed for MEDLINE]
20.

Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region.

Michelson M, Ben-Sasson A, Vinkler C, Leshinsky-Silver E, Netzer I, Frumkin A, Kivity S, Lerman-Sagie T, Lev D.

Am J Med Genet A. 2012 Jun;158A(6):1395-9. doi: 10.1002/ajmg.a.35361. Epub 2012 May 14.

PMID:
22585544
[PubMed - indexed for MEDLINE]

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