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Items: 4

1.

Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21).

Spreiz A, Müller D, Zotter S, Albrecht U, Baumann M, Fauth C, Erdel M, Zschocke J, Utermann G, Kotzot D.

Am J Med Genet A. 2010 Nov;152A(11):2762-7. doi: 10.1002/ajmg.a.33699.

PMID:
20954245
2.

Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature.

Zherebtsov MM, Klein RT, Aviv H, Toruner GA, Hanna NN, Brooks SS.

Clin Dysmorphol. 2007 Jul;16(3):135-40. Review.

PMID:
17551325
3.

A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity.

Varela MC, Simões-Sato AY, Kim CA, Bertola DR, De Castro CI, Koiffmann CP.

Eur J Med Genet. 2006 Jul-Aug;49(4):298-305.

PMID:
16829351
4.

Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype.

Faivre L, Cormier-Daire V, Lapierre JM, Colleaux L, Jacquemont S, Geneviéve D, Saunier P, Munnich A, Turleau C, Romana S, Prieur M, De Blois MC, Vekemans M.

J Med Genet. 2002 Aug;39(8):594-6. No abstract available. Erratum in: J Med Genet. 2004 Apr;41(4):320.

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