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Items: 1 to 20 of 276

1.

4q35 deletion and 10p15 duplication associated with immunodeficiency.

Cingoz S, Bisgaard AM, Bache I, Bryndorf T, Kirchoff M, Petersen W, Ropers HH, Maas N, Van Buggenhout G, Tommerup N, Tümer Z.

Am J Med Genet A. 2006 Oct 15;140(20):2231-5.

PMID:
16964622
2.

Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis.

Battaglia A, Novelli A, Ceccarini C, Carey JC.

Am J Med Genet A. 2006 Jan 15;140(2):144-50.

PMID:
16353244
3.
5.

A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review.

Courtens W, Wuyts W, Scheers S, Van Luijk R, Reyniers E, Rooms L, Ceulemans B, Kooy F, Wauters J.

Eur J Med Genet. 2006 Sep-Oct;49(5):402-13. Epub 2006 Jan 30. Review.

PMID:
16488200
6.

Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10).

Balikova I, Vermeesch JR, Fryns JP, Van Esch H.

Eur J Med Genet. 2009 Jul-Aug;52(4):260-1. doi: 10.1016/j.ejmg.2009.01.001. Epub 2009 Jan 14.

PMID:
19272308
7.

Subtelomeric rearrangements detected by FISH in three of 33 families with idiopathic mental retardation and minor physical anomalies.

Hélias-Rodzewicz Z, Bocian E, Stankiewicz P, Obersztyn E, Kostyk E, Jakubów-Durska K, Kutkowska-Kaźmierczak A, Mazurczak T.

J Med Genet. 2002 Sep;39(9):e53. No abstract available.

8.

A subterminal deletion of the long arm of chromosome 10: a clinical report and review.

Courtens W, Wuyts W, Rooms L, Pera SB, Wauters J.

Am J Med Genet A. 2006 Feb 15;140(4):402-9.

PMID:
16419133
9.

Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH.

Roos A, Rudnik-Schöneborn S, Eggermann K, Eggermann T, Senderek J, Schwanitz G, Zerres K, Schüler HM.

Eur J Med Genet. 2006 Nov-Dec;49(6):505-10. Epub 2006 Aug 4.

PMID:
16905374
10.

Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region.

Horn D, Neitzel H, Tönnies H, Kalscheuer V, Kunze J, Hinkel GK, Bartsch O.

Am J Med Genet A. 2003 Mar 15;117A(3):236-44. Review.

PMID:
12599186
11.

Familial translocation t(10;14) (q26.1;q32.3): report of three offspring with 10q deletion and 14q duplication.

Huang TH, Peckham D, Batanian JR, Martin MB, Kouba M, Caldwell CW, Miles JH.

Clin Genet. 1994 Oct;46(4):299-303.

PMID:
7834895
12.

Trisomy 16q21 --> qter: Seven-year follow-up of a girl with unusually long survival.

de Carvalho AF, da Silva Bellucco FT, dos Santos NP, Pellegrino R, de Azevedo Moreira LM, Toralles MB, Kulikowski LD, Melaragno MI.

Am J Med Genet A. 2010 Aug;152A(8):2074-8. doi: 10.1002/ajmg.a.33524.

PMID:
20635361
13.

Malformation syndrome of duplication 12q24.1 leads to qter.

Melnyk AR, Weiss L, Van Dyke DL, Jarvi P.

Am J Med Genet. 1981;10(4):357-65.

PMID:
7332029
14.

Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.

Bartholdi D, Toelle SP, Steiner B, Boltshauser E, Schinzel A, Riegel M.

Eur J Med Genet. 2008 Mar-Apr;51(2):113-23. doi: 10.1016/j.ejmg.2007.12.005. Epub 2008 Jan 4.

PMID:
18262484
15.

Cryptic translocation t(5;18) in familial mental retardation.

Vogels A, Devriendt K, Vermeesch JR, Van Dael R, Marynen P, Dewaele P, Hageman J, Holvoet M, Fryns JP.

Ann Genet. 2000 Jul-Dec;43(3-4):117-23.

PMID:
11164192
16.

Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait.

Zollino M, Colosimo C, Zuffardi O, Rossi E, Tosolini A, Walsh CA, Neri G.

Am J Med Genet A. 2003 Feb 15;117A(1):65-71.

PMID:
12548742
17.

Two distinctive classic genetic syndromes, 22q11.2 deletion syndrome and Angelman syndrome, occurring within the same family.

Kosaki R, Migita O, Takahashi T, Kosaki K.

Am J Med Genet A. 2009 Feb 15;149A(4):702-5. doi: 10.1002/ajmg.a.32666.

PMID:
19288551
18.

The Hunter-McAlpine syndrome results from duplication 5q35-qter.

Hunter AG, Dupont B, McLaughlin M, Hinton L, Baker E, Adès L, Haan E, Schwartz CE.

Clin Genet. 2005 Jan;67(1):53-60.

PMID:
15617549
19.

Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases.

Irving M, Hanson H, Turnpenny P, Brewer C, Ogilvie CM, Davies A, Berg J.

Am J Med Genet A. 2003 Dec 1;123A(2):153-63.

PMID:
14598339
20.

Terminal deletion of the long arm of chromosome 4 in a mother and two sons.

Descartes M, Keppler-Noreuil K, Knops J, Longshore JW, Finley WH, Carroll AJ.

Clin Genet. 1996 Dec;50(6):538-40. Review.

PMID:
9147894

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