114 related articles for article (PubMed ID: 19576303)
41. Terminal deletion of the long arm of chromosome 10: a new case with breakpoint in q25.3.
Petersen B; Strassburg HM; Feichtinger W; Kress W; Schmid M
Am J Med Genet; 1998 Apr; 77(1):60-2. PubMed ID: 9557896
[TBL] [Abstract][Full Text] [Related]
42. Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.
Béri-Dexheimer M; Latger-Cannard V; Philippe C; Bonnet C; Chambon P; Roth V; Grégoire MJ; Bordigoni P; Lecompte T; Leheup B; Jonveaux P
Eur J Hum Genet; 2008 Aug; 16(8):1014-8. PubMed ID: 18478040
[TBL] [Abstract][Full Text] [Related]
43. Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision.
Battaglia A; Filippi T; Carey JC
Am J Med Genet C Semin Med Genet; 2008 Nov; 148C(4):246-51. PubMed ID: 18932224
[TBL] [Abstract][Full Text] [Related]
44. 8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism.
Lipska BS; Brzeskwiniewicz M; Wierzba J; Morzuchi L; Piotrowski A; Limon J
Genet Couns; 2011; 22(4):353-63. PubMed ID: 22303795
[TBL] [Abstract][Full Text] [Related]
45. Corpus callosum abnormalities and the controversy about the candidate genes located in 1q44.
Orellana C; Roselló M; Monfort S; Oltra S; Quiroga R; Ferrer I; Martínez F
Cytogenet Genome Res; 2009; 127(1):5-8. PubMed ID: 20110648
[TBL] [Abstract][Full Text] [Related]
46. A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome.
Hoefele J; Gabert M; Heinrich U; Benz K; Rompel O; Rost I; Klein HG; Kunstmann E
Eur J Med Genet; 2012 Mar; 55(3):211-5. PubMed ID: 22361651
[TBL] [Abstract][Full Text] [Related]
47. Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene.
Woods KA; Camacho-Hübner C; Savage MO; Clark AJ
N Engl J Med; 1996 Oct; 335(18):1363-7. PubMed ID: 8857020
[No Abstract] [Full Text] [Related]
48. De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature.
Perrone MD; Rocca MS; Bruno I; Faletra F; Pecile V; Gasparini P
Eur J Med Genet; 2012 Feb; 55(2):117-9. PubMed ID: 22186213
[TBL] [Abstract][Full Text] [Related]
49. Chromosome deletions in 13q33-34: report of four patients and review of the literature.
Walczak-Sztulpa J; Wisniewska M; Latos-Bielenska A; Linné M; Kelbova C; Belitz B; Pfeiffer L; Kalscheuer V; Erdogan F; Kuss AW; Ropers HH; Ullmann R; Tzschach A
Am J Med Genet A; 2008 Feb; 146A(3):337-42. PubMed ID: 18203171
[TBL] [Abstract][Full Text] [Related]
50. A de novo interstitial deletion of 7q31.2q31.31 identified in a girl with developmental delay and hearing loss.
Zhao J; Noon SE; Krantz ID; Wu Y
Am J Med Genet C Semin Med Genet; 2016 Jun; 172(2):102-8. PubMed ID: 27075776
[TBL] [Abstract][Full Text] [Related]
51. Hearing impairment in a female infant with interstitial deletion of 2q24.1q24.3.
Ono H; Kurosawa K; Wakamatsu N; Masuda S
Congenit Anom (Kyoto); 2017 Jul; 57(4):118-121. PubMed ID: 28039919
[TBL] [Abstract][Full Text] [Related]
52. Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region.
Schönewolf-Greulich B; Ronan A; Ravn K; Baekgaard P; Lodahl M; Nielsen K; Rendtorff ND; Tranebjaerg L; Brøndum-Nielsen K; Tümer Z
Am J Med Genet A; 2011 Dec; 155A(12):2964-9. PubMed ID: 22052739
[TBL] [Abstract][Full Text] [Related]
53. Severe sensory hearing loss in del(6q)-syndrome.
Schuster M; Lohscheller J; Kummer P; Eysholdt U; Rosanowski F
Int J Pediatr Otorhinolaryngol; 2003 Nov; 67(11):1263-6. PubMed ID: 14597381
[TBL] [Abstract][Full Text] [Related]
54. 2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene.
Rooryck C; Stef M; Burgelin I; Simon D; Souakri N; Thambo JB; Chateil JF; Lacombe D; Arveiler B
Eur J Med Genet; 2009; 52(6):446-9. PubMed ID: 19733267
[TBL] [Abstract][Full Text] [Related]
55. Novel
Guan J; Yin L; Wang H; Chen G; Zhao C; Wang D; Wang QJ
Acta Otolaryngol; 2019 Oct; 139(10):870-875. PubMed ID: 31403828
[No Abstract] [Full Text] [Related]
56. BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome.
Breckpot J; Tranchevent LC; Thienpont B; Bauters M; Troost E; Gewillig M; Vermeesch JR; Moreau Y; Devriendt K; Van Esch H
Eur J Med Genet; 2012 Jan; 55(1):12-6. PubMed ID: 22067610
[TBL] [Abstract][Full Text] [Related]
57. De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations.
Probst FJ; James RA; Burrage LC; Rosenfeld JA; Bohan TP; Ward Melver CH; Magoulas P; Austin E; Franklin AI; Azamian M; Xia F; Patel A; Bi W; Bacino C; Belmont JW; Ware SM; Shaw C; Cheung SW; Lalani SR
Orphanet J Rare Dis; 2015 Jun; 10():75. PubMed ID: 26070612
[TBL] [Abstract][Full Text] [Related]
58. 2q24-q31 deletion: report of a case and review of the literature.
Pescucci C; Caselli R; Grosso S; Mencarelli MA; Mari F; Farnetani MA; Piccini B; Artuso R; Bruttini M; Priolo M; Zuffardi O; Gimelli S; Balestri P; Renieri A
Eur J Med Genet; 2007; 50(1):21-32. PubMed ID: 17088112
[TBL] [Abstract][Full Text] [Related]
59. Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function.
Miller ND; Nance MA; Wohler ES; Hoover-Fong JE; Lisi E; Thomas GH; Pevsner J
Am J Med Genet A; 2009 Feb; 149A(4):669-80. PubMed ID: 19253379
[TBL] [Abstract][Full Text] [Related]
60. [A case of West syndrome with a deletion at chromosome 2q24.3-q31.3].
Hattori Y; Kawawaki H; Horino A; Thuji H; Nukui M; Kuki I; Okazaki S; Tomiwa K
No To Hattatsu; 2017 Mar; 49(2):131-5. PubMed ID: 30113154
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
