146 related articles for article (PubMed ID: 24167463)
1. Interstitial deletions at 6q14.1q15 associated with developmental delay and a marfanoid phenotype.
Lowry RB; Chernos JE; Connelly MS; Wyse JP
Mol Syndromol; 2013 Sep; 4(6):280-4. PubMed ID: 24167463
[TBL] [Abstract][Full Text] [Related]
2. Interstitial Deletions at 6q14.1-q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype.
Wentzel C; Lynch SA; Stattin EL; Sharkey FH; Annerén G; Thuresson AC
Mol Syndromol; 2010; 1(2):75-81. PubMed ID: 21045960
[TBL] [Abstract][Full Text] [Related]
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; 55(8-9):490-7. PubMed ID: 22561202
[TBL] [Abstract][Full Text] [Related]
4. Interstitial 6q microdeletion syndrome and epilepsy: a new patient and review of the literature.
Vignoli A; Scornavacca GF; Peron A; La Briola F; Canevini MP
Am J Med Genet A; 2013 Aug; 161A(8):2009-15. PubMed ID: 23794236
[TBL] [Abstract][Full Text] [Related]
5. 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.
Thevenon J; Callier P; Poquet H; Bache I; Menten B; Malan V; Cavaliere ML; Girod JP; Thauvin-Robinet C; El Chehadeh S; Pinoit JM; Huet F; Verges B; Petit JM; Mosca-Boidron AL; Marle N; Mugneret F; Masurel-Paulet A; Novelli A; Tümer Z; Loeys B; Lyonnet S; Faivre L
J Med Genet; 2014 Jan; 51(1):21-7. PubMed ID: 24133203
[TBL] [Abstract][Full Text] [Related]
6. Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features.
Izumi K; Housam R; Kapadia C; Stallings VA; Medne L; Shaikh TH; Kublaoui BM; Zackai EH; Grimberg A
Am J Med Genet A; 2013 Dec; 161A(12):3137-43. PubMed ID: 24038875
[TBL] [Abstract][Full Text] [Related]
7. Interstitial 6q deletion in a patient presenting with drug-resistant epilepsy and Prader-Willi like phenotype: An electroclinical description with literature review.
Cutillo G; Bonacchi R; Cecchetti G; Bellini A; Vabanesi M; Zambon A; Natali Sora MG; Baldoli C; Del Carro U; Minicucci F; Fanelli GF; Filippi M
Seizure; 2023 Jul; 109():45-49. PubMed ID: 37210930
[TBL] [Abstract][Full Text] [Related]
8. De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome.
Faivre L; Khau Van Kien P; Callier P; Ruiz-Pallares N; Baudoin C; Plancke A; Wolf JE; Thauvin-Robinet C; Durand E; Minot D; Dulieu V; Metaizeau JD; Leheup B; Coron F; Bidot S; Huet F; Jondeau G; Boileau C; Claustres M; Mugneret F
Eur J Med Genet; 2010; 53(4):208-12. PubMed ID: 20478419
[TBL] [Abstract][Full Text] [Related]
9. Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.
Rosenfeld JA; Amrom D; Andermann E; Andermann F; Veilleux M; Curry C; Fisher J; Deputy S; Aylsworth AS; Powell CM; Manickam K; Heese B; Maisenbacher M; Stevens C; Ellison JW; Upton S; Moeschler J; Torres-Martinez W; Stevens A; Marion R; Pereira EM; Babcock M; Morrow B; Sahoo T; Lamb AN; Ballif BC; Paciorkowski AR; Shaffer LG
Neurogenetics; 2012 Feb; 13(1):31-47. PubMed ID: 22218741
[TBL] [Abstract][Full Text] [Related]
10. Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature.
Gilhuis HJ; van Ravenswaaij CM; Hamel BJ; Gabreëls FJ
Eur J Paediatr Neurol; 2000; 4(1):39-43. PubMed ID: 10701104
[TBL] [Abstract][Full Text] [Related]
11. Interstitial 6q deletion and Prader-Willi-like phenotype.
Stein CK; Stred SE; Thomson LL; Smith FC; Hoo JJ
Clin Genet; 1996 Jun; 49(6):306-10. PubMed ID: 8884080
[TBL] [Abstract][Full Text] [Related]
12. The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.
Shaffer LG; Theisen A; Bejjani BA; Ballif BC; Aylsworth AS; Lim C; McDonald M; Ellison JW; Kostiner D; Saitta S; Shaikh T
Genet Med; 2007 Sep; 9(9):607-16. PubMed ID: 17873649
[TBL] [Abstract][Full Text] [Related]
13. Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism.
Tomaszewska A; Podbiol-Palenta A; Boter M; Geisler G; Wawrzkiewicz-Witkowska A; Galjaard RJ; Zajączek S; Srebniak MI
Am J Med Genet A; 2013 Sep; 161A(9):2347-51. PubMed ID: 23918240
[TBL] [Abstract][Full Text] [Related]
14. Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype.
Balasubramanian M; Smith K; Basel-Vanagaite L; Feingold MF; Brock P; Gowans GC; Vasudevan PC; Cresswell L; Taylor EJ; Harris CJ; Friedman N; Moran R; Feret H; Zackai EH; Theisen A; Rosenfeld JA; Parker MJ
J Med Genet; 2011 May; 48(5):290-8. PubMed ID: 21343628
[TBL] [Abstract][Full Text] [Related]
15. Expanded Prader-Willi syndrome due to chromosome 15q11.2-14 deletion: report and a review of literature.
Liu AP; Tang WF; Lau ET; Chan KY; Kan AS; Wong KY; Tso WW; Jalal K; Lee SL; Chau CS; Chung BH
Am J Med Genet A; 2013 Jun; 161A(6):1309-18. PubMed ID: 23633107
[TBL] [Abstract][Full Text] [Related]
16. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria.
Gunay-Aygun M; Schwartz S; Heeger S; O'Riordan MA; Cassidy SB
Pediatrics; 2001 Nov; 108(5):E92. PubMed ID: 11694676
[TBL] [Abstract][Full Text] [Related]
17. Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment.
Murthy SK; Nygren AO; El Shakankiry HM; Schouten JP; Al Khayat AI; Ridha A; Al Ali MT
Cytogenet Genome Res; 2007; 116(1-2):135-40. PubMed ID: 17268193
[TBL] [Abstract][Full Text] [Related]
18. Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene.
Ronzoni L; Tagliaferri F; Tucci A; Baccarin M; Esposito S; Milani D
Am J Med Genet A; 2016 May; 170A(5):1257-61. PubMed ID: 26754677
[TBL] [Abstract][Full Text] [Related]
19. Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems.
D'Angelo CS; Da Paz JA; Kim CA; Bertola DR; Castro CI; Varela MC; Koiffmann CP
Eur J Med Genet; 2006; 49(6):451-60. PubMed ID: 16564757
[TBL] [Abstract][Full Text] [Related]
20. Copy number variation (CNV) analysis and mutation analysis of the 6q14.1-6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients.
Geets E; Zegers D; Beckers S; Verrijken A; Massa G; Van Hoorenbeeck K; Verhulst S; Van Gaal L; Van Hul W
Mol Genet Metab; 2016 Mar; 117(3):383-8. PubMed ID: 26795956
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
