167 related articles for article (PubMed ID: 24376033)
1. 9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?
Mucciolo M; Magini P; Marozza A; Mongelli P; Mencarelli MA; Hayek G; Tavalazzi F; Mari F; Seri M; Renieri A; Graziano C
Am J Med Genet A; 2014 Mar; 164A(3):685-90. PubMed ID: 24376033
[TBL] [Abstract][Full Text] [Related]
2. Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions.
Dugan SL; Panza E; Openshaw A; Botto LD; Camacho JA; Toydemir RM
Am J Med Genet A; 2018 Dec; 176(12):2901-2906. PubMed ID: 30346094
[TBL] [Abstract][Full Text] [Related]
3. [Identification of a novel deletion region in 3q29 microdeletion syndrome by oligonucleotide array comparative genomic hybridization].
Seo EJ; Jun KR; Yoo HW; Yoo HK; Lee JO
Korean J Lab Med; 2010 Feb; 30(1):70-5. PubMed ID: 20197726
[TBL] [Abstract][Full Text] [Related]
4. Further clinical and molecular delineation of the 15q24 microdeletion syndrome.
Mefford HC; Rosenfeld JA; Shur N; Slavotinek AM; Cox VA; Hennekam RC; Firth HV; Willatt L; Wheeler P; Morrow EM; Cook J; Sullivan R; Oh A; McDonald MT; Zonana J; Keller K; Hannibal MC; Ball S; Kussmann J; Gorski J; Zelewski S; Banks V; Smith W; Smith R; Paull L; Rosenbaum KN; Amor DJ; Silva J; Lamb A; Eichler EE
J Med Genet; 2012 Feb; 49(2):110-8. PubMed ID: 22180641
[TBL] [Abstract][Full Text] [Related]
5. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.
Koczkowska M; Wierzba J; Śmigiel R; Sąsiadek M; Cabała M; Ślężak R; Iliszko M; Kardaś I; Limon J; Lipska-Ziętkiewicz BS
J Appl Genet; 2017 Feb; 58(1):93-98. PubMed ID: 27629806
[TBL] [Abstract][Full Text] [Related]
6. [Phenotypic and genetic analysis of a girl with multiple congenital deformities due to 2p15-p16.1 microdeletion syndrome].
Wu D; Wang H; Zhang H; Hou Q; Qin L; Wang T; Xiao H; Liao S; Wang Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Dec; 32(6):823-6. PubMed ID: 26663057
[TBL] [Abstract][Full Text] [Related]
7. Chromosome 1q31.2q32.1 deletion in an adult male with intellectual disability, dysmorphic features and obesity.
Hyder Z; Fairclough A; Douzgou S
Clin Dysmorphol; 2019 Jul; 28(3):131-136. PubMed ID: 31045593
[TBL] [Abstract][Full Text] [Related]
8. Terminal microdeletion of chromosome 18 in a Malaysian boy characterized with few features of typical 18q- deletion syndrome: a case report.
Ismail A; Ahid F; Thong MK; Zakaria Z
J Med Case Rep; 2023 Jun; 17(1):250. PubMed ID: 37296475
[TBL] [Abstract][Full Text] [Related]
9. A Chinese patient with KBG syndrome and a 9q31.2-33.1 microdeletion.
Xu M; Zhou H; Yong J; Cong P; Li C; Yu Y; Qi M
Eur J Med Genet; 2013 May; 56(5):245-50. PubMed ID: 23369839
[TBL] [Abstract][Full Text] [Related]
10. 1q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome.
Tim-Aroon T; Jinawath N; Thammachote W; Sinpitak P; Limrungsikul A; Khongkhatithum C; Wattanasirichaigoon D
Am J Med Genet A; 2017 Mar; 173(3):766-770. PubMed ID: 28211977
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 21739578
[TBL] [Abstract][Full Text] [Related]
12. Distinct phenotype of PHF6 deletions in females.
Di Donato N; Isidor B; Lopez Cazaux S; Le Caignec C; Klink B; Kraus C; Schrock E; Hackmann K
Eur J Med Genet; 2014 Feb; 57(2-3):85-9. PubMed ID: 24380767
[TBL] [Abstract][Full Text] [Related]
13. Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome.
Disciglio V; Lo Rizzo C; Mencarelli MA; Mucciolo M; Marozza A; Di Marco C; Massarelli A; Canocchi V; Baldassarri M; Ndoni E; Frullanti E; Amabile S; Anderlid BM; Metcalfe K; Le Caignec C; David A; Fryer A; Boute O; Joris A; Greco D; Pecile V; Battini R; Novelli A; Fichera M; Romano C; Mari F; Renieri A
Am J Med Genet A; 2014 Jul; 164A(7):1666-76. PubMed ID: 24700646
[TBL] [Abstract][Full Text] [Related]
14. 17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature.
Rasmussen M; Vestergaard EM; Graakjaer J; Petkov Y; Bache I; Fagerberg C; Kibaek M; Svaneby D; Petersen OB; Brasch-Andersen C; Sunde L
Am J Med Genet A; 2016 Nov; 170(11):2934-2942. PubMed ID: 27409573
[TBL] [Abstract][Full Text] [Related]
15. Fine mapping of breakpoints in two unrelated patients with rare overlapping interstitial deletions of 9q with mild dysmorphic features.
Kulharya AS; Flannery DB; Norris K; Lovell C; Levy B; Velagaleti GV
Am J Med Genet A; 2008 Sep; 146A(17):2234-41. PubMed ID: 18666229
[TBL] [Abstract][Full Text] [Related]
16. Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1.
Rajcan-Separovic E; Harvard C; Liu X; McGillivray B; Hall JG; Qiao Y; Hurlburt J; Hildebrand J; Mickelson EC; Holden JJ; Lewis ME
J Med Genet; 2007 Apr; 44(4):269-76. PubMed ID: 16963482
[TBL] [Abstract][Full Text] [Related]
17. 1q24 deletion syndrome. Two cases and new insights into genotype-phenotype correlations.
Lefroy H; Fox O; Javaid MK; Makaya T; Shears DJ
Am J Med Genet A; 2018 Sep; 176(9):2004-2008. PubMed ID: 30079626
[TBL] [Abstract][Full Text] [Related]
18. Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes.
Snijders Blok C; Corsten-Janssen N; FitzPatrick DR; Romano C; Fichera M; Vitello GA; Willemsen MH; Schoots J; Pfundt R; van Ravenswaaij-Arts CM; Hoefsloot L; Kleefstra T
Am J Med Genet A; 2014 Nov; 164A(11):2843-8. PubMed ID: 25251717
[TBL] [Abstract][Full Text] [Related]
19. A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: further characterization and review.
Schwaibold EM; Zoll B; Burfeind P; Hobbiebrunken E; Wilken B; Funke R; Shoukier M
Am J Med Genet A; 2013 Oct; 161A(10):2634-40. PubMed ID: 23949945
[TBL] [Abstract][Full Text] [Related]
20. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
Hannes FD; Sharp AJ; Mefford HC; de Ravel T; Ruivenkamp CA; Breuning MH; Fryns JP; Devriendt K; Van Buggenhout G; Vogels A; Stewart H; Hennekam RC; Cooper GM; Regan R; Knight SJ; Eichler EE; Vermeesch JR
J Med Genet; 2009 Apr; 46(4):223-32. PubMed ID: 18550696
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
