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Items: 1 to 20 of 119

1.

Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion.

Marangi G, Orteschi D, Vigevano F, Felie J, Walsh CA, Manzini MC, Neri G.

Am J Med Genet A. 2012 Apr;158A(4):888-93. doi: 10.1002/ajmg.a.35254. Epub 2012 Mar 14.

2.

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
3.

A boy with mild mental retardation, mild sensorineural hearing loss and mild facial dysmorphism caused by a 19p13.2 deletion: a case report and review of the literature.

Schwemmle C, Rost I, Spranger S, Jungheim M, Ptok M.

Int J Pediatr Otorhinolaryngol. 2014 Jul;78(7):1190-3. doi: 10.1016/j.ijporl.2014.03.031. Epub 2014 Apr 8. Review.

PMID:
24814572
4.

Clinical comparison of overlapping deletions of 19p13.3.

Risheg H, Pasion R, Sacharow S, Proud V, Immken L, Schwartz S, Tepperberg JH, Papenhausen P, Tan TY, Andrieux J, Plessis G, Amor DJ, Keitges EA.

Am J Med Genet A. 2013 May;161A(5):1110-6. doi: 10.1002/ajmg.a.35923.

PMID:
23610052
5.

Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.

Peddibhotla S, Khalifa M, Probst FJ, Stein J, Harris LL, Kearney DL, Vance GH, Bull MJ, Grange DK, Scharer GH, Kang SH, Stankiewicz P, Bacino CA, Cheung SW, Patel A.

Am J Med Genet A. 2013 Dec;161A(12):2953-63. doi: 10.1002/ajmg.a.35886. Epub 2013 Oct 2.

PMID:
24123848
6.
7.

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. doi: 10.1136/jmg.2007.055202. Epub 2008 Jun 11.

8.

Intellectual disability and overgrowth-A new case of 19p13.13 microdeletion syndrome with digital abnormalities.

Jorge R, Silva C, Águeda S, Dória S, Leão M.

Am J Med Genet A. 2015 Nov;167A(11):2839-43. doi: 10.1002/ajmg.a.37280. Epub 2015 Sep 4.

PMID:
26338046
9.

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
10.

Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter.

Archer HL, Gupta S, Enoch S, Thompson P, Rowbottom A, Chua I, Warren S, Johnson D, Ledbetter DH, Lese-Martin C, Williams P, Pilz DT.

Am J Med Genet A. 2005 Jul 1;136(1):38-44. Review.

PMID:
15937949
11.

Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability.

Gazou A, Riess A, Grasshoff U, Schäferhoff K, Bonin M, Jauch A, Riess O, Tzschach A.

Am J Med Genet A. 2013 Apr;161A(4):860-4. doi: 10.1002/ajmg.a.35778. Epub 2013 Mar 12.

PMID:
23520119
12.

Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder.

Quintela I, Barros F, Fernandez-Prieto M, Martinez-Regueiro R, Castro-Gago M, Carracedo A, Gomez-Lado C, Eiris J.

Am J Med Genet A. 2015 Dec;167A(12):3113-20. doi: 10.1002/ajmg.a.37291. Epub 2015 Aug 18.

PMID:
26284580
13.

A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12.

Van der Aa N, Vandeweyer G, Kooy RF.

Eur J Med Genet. 2010 Sep-Oct;53(5):291-3. doi: 10.1016/j.ejmg.2010.05.006. Epub 2010 Jun 4.

PMID:
20570643
14.

An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion.

Lybaek H, Ørstavik KH, Prescott T, Hovland R, Breilid H, Stansberg C, Steen VM, Houge G.

Eur J Hum Genet. 2009 Jul;17(7):904-10. doi: 10.1038/ejhg.2008.261. Epub 2009 Jan 21.

15.

Microdeletion 19p13.2 in an almost 5-year-old boy.

Haberlandt E, Spreiz A, Sigl SB, Janetschek C, Röthlisberger B, Zotter S, Rostasy K, Zschocke J, Kotzot D.

Am J Med Genet A. 2012 May;158A(5):1190-4. doi: 10.1002/ajmg.a.35291. Epub 2012 Apr 9.

PMID:
22488779
16.

Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy.

Bassuk AG, Geraghty E, Wu S, Mullen SA, Berkovic SF, Scheffer IE, Mefford HC.

Am J Med Genet A. 2013 Jul;161A(7):1722-5. doi: 10.1002/ajmg.a.35946. Epub 2013 May 17.

17.

Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion.

Gallant NM, Baldwin E, Salamon N, Dipple KM, Quintero-Rivera F.

Am J Med Genet A. 2011 Nov;155A(11):2871-8. doi: 10.1002/ajmg.a.34286. Epub 2011 Oct 12.

PMID:
21994138
18.

A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications.

Thienpont B, Breckpot J, Vermeesch JR, Gewillig M, Devriendt K.

Eur J Med Genet. 2008 May-Jun;51(3):219-25. doi: 10.1016/j.ejmg.2007.12.009. Epub 2008 Jan 9.

PMID:
18282819
19.

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.

Chatron N, Haddad V, Andrieux J, Désir J, Boute O, Dieux A, Baumann C, Drunat S, Gérard M, Bonnet C, Leheup B, Till M, Rossi M, Flori E, Alembik Y, Stewart H, McParland J, Bernardini L, Castelluccio P, Roos L, Tümer Z, Fagan K, Hackett A, Bain N, van Haeringen A, Ruivenkamp C, Benzacken B, Sanlaville D, Edery P, Aboura A, Schluth-Bolard C.

Am J Med Genet A. 2015 May;167A(5):1008-17. doi: 10.1002/ajmg.a.36856. Epub 2015 Feb 25.

PMID:
25728055
20.

Genotype-phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion.

Fanizza I, Bertuzzo S, Beri S, Scalera E, Massagli A, Sali ME, Giorda R, Bonaglia MC.

Eur J Med Genet. 2014 Jul;57(7):334-8. doi: 10.1016/j.ejmg.2014.04.009. Epub 2014 Apr 26.

PMID:
24780630

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