Publications:

RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family.

Clinics (Sao Paulo, Brazil)

Quedas, Elisangela P S EP; Longuini, Viviane C VC; Sekiya, Tomoko T; Coutinho, Flavia L FL; Toledo, Sergio P A SP; Tannuri, Uenis U; Toledo, Rodrigo A RA

Publication Date: 2012

Variant appearance in text: rs2505533

PubMed Link: 22584707

Variant Present in the following documents:

• Main text
• cln-67-s1-57.pdf

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Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region.

Bmc Medical Genetics

Fernández, Raquel M RM; Núñez-Torres, Rocío R; González-Meneses, Antonio A; Antiñolo, Guillermo G; Borrego, Salud S

Publication Date: 2010-09-22

Variant appearance in text: rs2505533

PubMed Link: 20860806

Variant Present in the following documents:

• Main text
• 1471-2350-11-137.pdf

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Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.

Plos One

Cornes, Belinda K BK; Tang, Clara S CS; Leon, Thomas Y Y TY; Hui, Kenneth J W S KJ; So, Man-Ting MT; Miao, Xiaoping X; Cherny, Stacey S SS; Sham, Pak C PC; Tam, Paul K H PK; Garcia-Barcelo, Maria-Merce MM

Publication Date: 2010-06-02

Variant appearance in text: rs2505533

PubMed Link: 20532249

Variant Present in the following documents:

• Main text

View BVdb publication page