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Items: 1 to 20 of 180

1.

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature.

Raas-Rothschild A, Dijkhuizen T, Sikkema-Raddatz B, Werner M, Dagan J, Abeliovich D, Lerer I.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):140-4. doi: 10.1016/j.ejmg.2009.03.011. Epub 2009 Mar 26. Review.

PMID:
19328248
2.

Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization.

Shieh JT, Aradhya S, Novelli A, Manning MA, Cherry AM, Brumblay J, Salpietro CD, Bernardini L, Dallapiccola B, Hoyme HE.

Am J Med Genet A. 2006 Jun 15;140(12):1267-73.

PMID:
16691576
3.

A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype.

Jain S, Yang P, Farrell SA.

Eur J Med Genet. 2010 Mar-Apr;53(2):108-10. doi: 10.1016/j.ejmg.2009.12.006. Epub 2010 Jan 14.

PMID:
20074678
4.

A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome.

Debost-Legrand A, Eymard-Pierre E, Pebrel-Richard C, Gouas L, Goumy C, Giollant M, Ayed W, Tchirkov A, Francannet C, Vago P.

Am J Med Genet A. 2013 Jan;161A(1):162-5. doi: 10.1002/ajmg.a.35614. Epub 2012 Dec 13.

PMID:
23239647
5.

8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.

Barber JC, Maloney VK, Huang S, Bunyan DJ, Cresswell L, Kinning E, Benson A, Cheetham T, Wyllie J, Lynch SA, Zwolinski S, Prescott L, Crow Y, Morgan R, Hobson E.

Eur J Hum Genet. 2008 Jan;16(1):18-27. Epub 2007 Oct 17.

6.

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
7.

Additional patient with del(12)(q21.2q22): further evidence for a candidate region for cardio-facio-cutaneous syndrome?

Rauen KA, Albertson DG, Pinkel D, Cotter PD.

Am J Med Genet. 2002 Jun 1;110(1):51-6.

PMID:
12116271
8.

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. doi: 10.1136/jmg.2010.084491. Epub 2011 Feb 22.

PMID:
21343628
9.

Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature.

Ballarati L, Cereda A, Caselli R, Selicorni A, Recalcati MP, Maitz S, Finelli P, Larizza L, Giardino D.

Eur J Med Genet. 2011 Jan-Feb;54(1):55-9. doi: 10.1016/j.ejmg.2010.10.003. Epub 2010 Oct 20. Review.

PMID:
20969981
10.

The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.

Van Buggenhout G, Van Ravenswaaij-Arts C, Mc Maas N, Thoelen R, Vogels A, Smeets D, Salden I, Matthijs G, Fryns JP, Vermeesch JR.

Eur J Med Genet. 2005 Jul-Sep;48(3):276-89.

PMID:
16179223
11.

Narrowing the deleted region associated with the 15q21 syndrome.

Pramparo T, Mattina T, Gimelli S, Liehr T, Zuffardi O.

Eur J Med Genet. 2005 Jul-Sep;48(3):346-52.

PMID:
16179230
12.

Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome.

Redon R, Baujat G, Sanlaville D, Le Merrer M, Vekemans M, Munnich A, Carter NP, Cormier-Daire V, Colleaux L.

Eur J Hum Genet. 2006 Jun;14(6):759-67.

13.

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation.

Malan V, Raoul O, Firth HV, Royer G, Turleau C, Bernheim A, Willatt L, Munnich A, Vekemans M, Lyonnet S, Cormier-Daire V, Colleaux L.

J Med Genet. 2009 Sep;46(9):635-40. doi: 10.1136/jmg.2008.062034. Epub 2009 Jan 6.

PMID:
19126570
14.

Clinical report: AN INTERSTITIAL deletion of 16p13.11 detected by array CGH in a patient with infantile spasms.

Balasubramanian M, Smith K, Mordekar SR, Parker MJ.

Eur J Med Genet. 2011 May-Jun;54(3):314-8. doi: 10.1016/j.ejmg.2011.01.008. Epub 2011 Feb 26.

PMID:
21315189
15.

A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.

Klopocki E, Fiebig B, Robinson P, Tönnies H, Erdogan F, Ropers HH, Mundlos S, Ullmann R.

Am J Med Genet A. 2006 Apr 15;140(8):873-7.

PMID:
16528753
16.

2q31.2q32.3 deletion syndrome: report of an adult patient.

Prontera P, Bernardini L, Stangoni G, Capalbo A, Rogaia D, Ardisia C, Novelli A, Dallapiccola B, Donti E.

Am J Med Genet A. 2009 Feb 15;149A(4):706-12. doi: 10.1002/ajmg.a.32688.

PMID:
19248183
17.

1.6Mb deletion in chromosome band 3q29 associated with eye abnormalities.

Tyshchenko N, Hackmann K, Gerlach EM, Neuhann T, Schrock E, Tinschert S.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):128-30. doi: 10.1016/j.ejmg.2009.03.002. Epub 2009 Mar 17.

PMID:
19298871
18.

A child with an inherited 0.31 Mb microdeletion of chromosome 14q32.33: further delineation of a critical region for the 14q32 deletion syndrome.

Holder JL Jr, Lotze TE, Bacino C, Cheung SW.

Am J Med Genet A. 2012 Aug;158A(8):1962-6. doi: 10.1002/ajmg.a.35289. Epub 2012 Apr 9.

PMID:
22488736
19.

A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletion.

Liang JS, Shimojima K, Ohno K, Sugiura C, Une Y, Ohno K, Yamamoto T.

J Med Genet. 2009 Sep;46(9):645-7. doi: 10.1136/jmg.2008.059220. No abstract available.

PMID:
19724011
20.

Microdeletion 8q22.2-q22.3 in a 40-year-old male.

Sinajon P, Gofine T, Ingram J, So J.

Eur J Med Genet. 2015 Nov;58(11):569-72. doi: 10.1016/j.ejmg.2015.10.004. Epub 2015 Oct 9.

PMID:
26455667

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