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Items: 1 to 20 of 93

1.

Estimate of prevalence of proximal 15q duplication syndrome.

Moeschler JB, Mohandas TK, Hawk AB, Noll WW.

Am J Med Genet. 2002 Sep 1;111(4):440-2. No abstract available.

PMID:
12210307
2.

A case of de novo distal duplication of chromosome 15.

Abe Y, Tanaka D, Soga T, Takeuchi T, Iikura Y.

Clin Genet. 2003 Jan;63(1):76-8. No abstract available.

PMID:
12519377
3.

15q duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH.

Koochek M, Harvard C, Hildebrand MJ, Van Allen M, Wingert H, Mickelson E, Holden JJ, Rajcan-Separovic E, Lewis ME.

Clin Genet. 2006 Feb;69(2):124-34.

PMID:
16433693
4.

Toriello-Carey syndrome phenotype and chromosome anomalies.

Toriello HV, Hatchwell E.

Am J Med Genet A. 2008 Jan 1;146A(1):116. No abstract available.

PMID:
18074373
5.

Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome.

Meins M, Burfeind P, Motsch S, Trappe R, Bartmus D, Langer S, Speicher MR, Mühlendyck H, Bartels I, Zoll B.

J Med Genet. 2003 May;40(5):e62. Review. No abstract available.

6.

Neuroblastoma and partial 15q duplication in the fetus.

Fryns JP, Moerman P, Kleczkowska A, van den Berghe H.

Ann Genet. 1994;37(1):42-3. No abstract available.

PMID:
8010715
7.

Karyotype/phenotype correlations in duplication 4q: evidence for a critical region within 4q27-28 for preaxial defects.

Battaglia A, Chen Z, Brothman AR, Morelli S, Palumbos JC, Carey JC, Hudgins L, Disteche C.

Am J Med Genet A. 2005 Apr 30;134(3):334-7. No abstract available.

PMID:
15759263
8.

Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype.

Genesio R, De Brasi D, Conti A, Borghese A, Di Micco P, Di Costanzo P, Paladini D, Ungaro P, Nitsch L.

Am J Med Genet A. 2004 Aug 1;128A(4):422-8. Erratum in: Am J Med Genet A. 2005 Jul 1;136(1):113. Rita, Genesio [corrected to Genesio, Rita]; Daniele, De Brasi [corrected to De Brasi, Daniele]; Anna, Conti [corrected to Conti, Anna]; Annamaria, Borghese [corrected to Borghese, Annamaria]; Pasqua, Di Micco [corrected to Di Micco, Pasqua]; Pasquale, Di Costanzo [corrected to Di Costanzo, Pasquale]; Dario, Paladini [corrected to Paladini, Dario]; Paola, Ungaro [corrected to Ungaro, Paola]; Lucio, Nitsch [corrected to Nitsch, Lucio].

PMID:
15264291
9.

8p23 duplication reconsidered: is it a true euchromatic variant with no clinical manifestation?

Tsai CH, Graw SL, McGavran L.

J Med Genet. 2002 Oct;39(10):769-74. No abstract available.

10.

Investigation of 4q-deletion in two unrelated patients using array CGH.

Kaalund SS, Møller RS, Tészás A, Miranda M, Kosztolanyi G, Ullmann R, Tommerup N, Tümer Z.

Am J Med Genet A. 2008 Sep 15;146A(18):2431-4. doi: 10.1002/ajmg.a.32458. No abstract available.

PMID:
18688872
11.

Dysmorphic features and learning disability in an adult male with pure partial trisomy 17q24-q25 due to a terminal duplication.

Kelly BD, Becker K, Kermode V, Stallings RL, Murphy RP, Green AJ, Hillery J.

Am J Med Genet. 2002 Oct 1;112(2):217-20.

PMID:
12244560
12.

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
13.

Multiple congenital abnormalities in a newborn with two supernumerary marker chromosomes derived from chromosome 14.

Faas BH, Van Der Deure J, Wunderink MI, Merkx G, Brunner HG.

Genet Couns. 2006;17(3):349-57.

PMID:
17100204
14.

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
15.

Phenocopy of Wolf-Hirschhorn syndrome in a patient with duplication 12q13.3q14.1.

Dallapiccola B, Bernardini L, Novelli A, Mingarelli R.

Am J Med Genet A. 2009 Mar;149A(3):546-8. doi: 10.1002/ajmg.a.32695. No abstract available.

PMID:
19215045
16.

The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder.

Battaglia A.

Brain Dev. 2005 Aug;27(5):365-9. Epub 2005 Apr 22. Review.

PMID:
16023554
17.

Facial asymmetry, cardiovascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome: a microdeletion/duplication in 13q.

Maas N, Thienpont B, Vermeesch JR, Fryns JP.

Genet Couns. 2006;17(4):477-9. No abstract available. Erratum in: Genet Couns. 2007;18(2):263. Thienpont, B [added].

PMID:
17375538
18.

5q35 duplication and Hunter-McAlpine syndrome: missing the link.

Rivera H, Vásquez-Velásquez AI.

Am J Med Genet A. 2010 Mar;152A(3):802-3; author reply 804. doi: 10.1002/ajmg.a.33262. No abstract available.

PMID:
20186800
19.

On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS.

Miyake N, Harada N, Shimokawa O, Ohashi H, Kurosawa K, Matsumoto T, Fukushima Y, Nagai T, Shotelersuk V, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N.

Am J Med Genet A. 2004 Jul 15;128A(2):170-2. No abstract available.

PMID:
15214010
20.

Duplication of the distal long arm of chromosome 15: report of three new patients and review of the literature.

Roggenbuck JA, Mendelsohn NJ, Tenenholz B, Ladda RL, Fink JM.

Am J Med Genet A. 2004 May 1;126A(4):398-402. Review.

PMID:
15098238

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