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Items: 14

1.

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.

Bachmann-Gagescu R, Mefford HC, Cowan C, Glew GM, Hing AV, Wallace S, Bader PI, Hamati A, Reitnauer PJ, Smith R, Stockton DW, Muhle H, Helbig I, Eichler EE, Ballif BC, Rosenfeld J, Tsuchiya KD.

Genet Med. 2010 Oct;12(10):641-7. doi: 10.1097/GIM.0b013e3181ef4286.

PMID:
20808231
2.

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.

Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P, Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V, Luscombe S, Tucker E, Turner L, Marshall CR, Scherer SW.

J Med Genet. 2010 Mar;47(3):195-203. doi: 10.1136/jmg.2009.069369. Epub 2009 Sep 15.

PMID:
19755429
3.

Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization.

Hempel M, Rivera Brugués N, Wagenstaller J, Lederer G, Weitensteiner A, Seidel H, Meitinger T, Strom TM.

Am J Med Genet A. 2009 Oct;149A(10):2106-12. doi: 10.1002/ajmg.a.33042.

PMID:
19676056
4.

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.

Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH, van Haeringen A, Fransen van de Putte DE, Anderlid BM, Lundin J, Lapunzina P, Pérez Jurado LA, Delle Chiaie B, Loeys B, Menten B, Oostra A, Verhelst H, Amor DJ, Bruno DL, van Essen AJ, Hordijk R, Sikkema-Raddatz B, Verbruggen KT, Jongmans MC, Pfundt R, Reeser HM, Breuning MH, Ruivenkamp CA.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):77-87. doi: 10.1016/j.ejmg.2009.03.006. Epub 2009 Mar 21.

PMID:
19306953
5.

First prenatally diagnosed case of 16p11.2p12.1 duplication.

Bourthoumieu S, Esclaire F, Terro F, Fiorenza M, Aubard V, Malan V, Romana S, Yardin C.

Prenat Diagn. 2008 Mar;28(3):254-6. doi: 10.1002/pd.1949. No abstract available.

PMID:
18241085
6.

Euchromatic variant 16p+. Implications in prenatal diagnosis.

López Pajares I, Villa O, Salido M, Mori MA, Gonzalez A, Lapunzina P, De Torres ML, Vallcorba I, Palomares M, Fernández L, Delicado A.

Prenat Diagn. 2006 Jun;26(6):535-8.

PMID:
16634122
7.

FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour.

Finelli P, Natacci F, Bonati MT, Gottardi G, Engelen JJ, de Die-Smulders CE, Sala M, Giardino D, Larizza L.

J Med Genet. 2004 Jul;41(7):e90. No abstract available.

8.

Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations.

Hernando C, Plaja A, Rigola MA, Pérez MM, Vendrell T, Egocue J, Fuster C.

J Med Genet. 2002 May;39(5):E24. No abstract available.

9.

Two unbalanced segregation products due to a maternal t(7;16)inv(16).

Leegte B, Sikkema-Raddatz B, Hordijk R, Davelaar I, van der Veen A, Cobben JM.

Prenat Diagn. 2001 Jul;21(7):550-2.

PMID:
11494289
10.

Clinical applications of comparative genomic hybridization.

Levy B, Dunn TM, Kaffe S, Kardon N, Hirschhorn K.

Genet Med. 1998 Nov-Dec;1(1):4-12.

PMID:
11261428
11.

De novo trisomy 16p11.2-qter: report of an infant.

Masuno M, Ishii T, Tanaka Y, Ohyama M, Kawataki M, Kimura J, Imaizumi K, Kuroki Y.

Am J Med Genet. 2000 Jun 19;92(5):308-10.

PMID:
10861658
12.

Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level.

Barber JC, Reed CJ, Dahoun SP, Joyce CA.

Hum Genet. 1999 Mar;104(3):211-8. Review.

PMID:
10323244
13.

De novo trisomy 16p.

Carrasco Juan JL, Cigudosa JC, Otero Gómez A, Acosta Almeida MT, García Miranda JL.

Am J Med Genet. 1997 Jan 20;68(2):219-21.

PMID:
9028462
14.

Myelodysplastic syndrome in a kindred with ins(16) (p11.2).

Clark RE, Geddes D, Whittaker K, Jacobs A.

Clin Genet. 1988 Jun;33(6):418-23.

PMID:
3168314

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