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Select item 100006141.

A Familial Case of Multiple Endocrine Neoplasia 2A: From Morphology to Genetic Alterations Penetration in Three Generations of a Family

Lan Chen, Jing-Xin Zhang, Dong-Ge Liu, Hong-Gang Liu

Diagnostics (Basel) 2023 Mar; 13(5): 955. Published online 2023 Mar 2. doi: 10.3390/diagnostics13050955

PMCID:: PMC10000614

Article PDF–3.1M

Select item 42899372.

Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility

Rodrigo A Toledo, Roxanne Hatakana, Delmar M Lourenço, Jr, Susan C Lindsey, Cleber P Camacho, Marcio Almeida, José V Lima, Jr, Tomoko Sekiya, Elena Garralda, Michel S Naslavsky, Guilherme L Yamamoto, Monize Lazar, Osorio Meirelles, Tiago J P Sobreira, Maria Lucia Lebrao, Yeda A O Duarte, John Blangero, Mayana Zatz, Janete M Cerutti, Rui M B Maciel, Sergio P A Toledo

Endocr Relat Cancer. 2015 Feb; 22(1): 65–76. Prepublished online 2014 Nov 25. doi: 10.1530/ERC-14-0491

PMCID:: PMC4289937

Article PDF–246K

Select item 40401483.

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

Daw-Yang Hwang, Gabriel C. Dworschak, Stefan Kohl, Pawaree Saisawat, Asaf Vivante, Alina C. Hilger, Heiko M. Reutter, Neveen A. Soliman, Radovan Bogdanovic, Elijah O. Kehinde, Velibor Tasic, Friedhelm Hildebrandt

Kidney Int. Author manuscript; available in PMC 2014 Dec 1.

Published in final edited form as: Kidney Int. 2014 Jun; 85(6): 1429–1433. Published online 2014 Jan 15. doi: 10.1038/ki.2013.508

PMCID:: PMC4040148

Article PDF–305K

Select item 28967674.

Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability

Eileen Sproat Emison, Merce Garcia-Barcelo, Elizabeth A. Grice, Francesca Lantieri, Jeanne Amiel, Grzegorz Burzynski, Raquel M. Fernandez, Li Hao, Carl Kashuk, Kristen West, Xiaoping Miao, Paul K.H. Tam, Paola Griseri, Isabella Ceccherini, Anna Pelet, Anne-Sophie Jannot, Loic de Pontual, Alexandra Henrion-Caude, Stanislas Lyonnet, Joke B.G.M. Verheij, Robert M.W. Hofstra, Guillermo Antiñolo, Salud Borrego, Andrew S. McCallion, Aravinda Chakravarti

Am J Hum Genet. 2010 Jul 9; 87(1): 60–74. doi: 10.1016/j.ajhg.2010.06.007

PMCID:: PMC2896767

Article PDF–857K

Select item 26490105.

Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus

L de Pontual, A Pelet, D Trochet, F Jaubert, Y Espinosa‐Parrilla, A Munnich, J‐F Brunet, C Goridis, J Feingold, S Lyonnet, J Amiel

J Med Genet. 2006 May; 43(5): 419–423. Published online 2006 Jan 27. doi: 10.1136/jmg.2005.040113

PMCID:: PMC2649010

Article PDF–226K

Select item 26140786.

Hirschsprung Disease Is Linked to Defects in Neural Crest Stem Cell Function

Toshihide Iwashita, Genevieve M. Kruger, Ricardo Pardal, Mark J. Kiel, Sean J. Morrison

Science. Author manuscript; available in PMC 2009 Jan 6.

Published in final edited form as: Science. 2003 Aug 15; 301(5635): 972–976. doi: 10.1126/science.1085649

PMCID:: PMC2614078

Article PDF–1.2M

Select item 24272937.

Renal Aplasia in Humans Is Associated with RET Mutations

Michael A. Skinner, Shawn D. Safford, Justin G. Reeves, Margaret E. Jackson, Alex J. Freemerman

Am J Hum Genet. 2008 Feb 8; 82(2): 344–351. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.10.008

PMCID:: PMC2427293

Article PDF–406K

Select item 21724538.

The neuronal scaffold protein Shank3 mediates signaling and biological function of the receptor tyrosine kinase Ret in epithelial cells

Gunnar Schuetz, Marta Rosário, Jan Grimm, Tobias M. Boeckers, Eckart D. Gundelfinger, Walter Birchmeier

J Cell Biol. 2004 Dec 6; 167(5): 945–952. doi: 10.1083/jcb.200404108

PMCID:: PMC2172453

Article PDF–1.6M

Select item 19184539.

Parent-of-origin effects in multiple endocrine neoplasia type 2B.

K. M. Carlson, J. Bracamontes, C. E. Jackson, R. Clark, A. Lacroix, S. A. Wells, Jr, P. J. Goodfellow

Am J Hum Genet. 1994 Dec; 55(6): 1076–1082.

PMCID:: PMC1918453

Summary Page Browse PDF–1.3M

Select item 173604010.

Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at –1249

R Fernandez, G Boru, A Pecina, K Jones, M Lopez-Alonso, G Antinolo, S Borrego, C Eng

J Med Genet. 2005 Apr; 42(4): 322–327. doi: 10.1136/jmg.2004.023960

Correction in:: J Med Genet. 2005 Jun; 42(6): 502.

PMCID:: PMC1736040

Summary PDF–210K

Select item 173465811.

RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease

S. Borrego, A. Ruiz, M. E. Saez, O. Gimm, X. Gao, M. Lopez-Alonso, A. Hernandez, F. Wright, G. Antinolo, C. Eng

J Med Genet. 2000 Aug; 37(8): 572–578. doi: 10.1136/jmg.37.8.572

PMCID:: PMC1734658

Summary PDF–167K

Select item 173423812.

Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression

S. Borrego, M. E. Saez, A. Ruiz, O. Gimm, M. Lopez-Alonso, G. Antinolo, C. Eng

J Med Genet. 1999 Oct; 36(10): 771–774. doi: 10.1136/jmg.36.10.771

PMCID:: PMC1734238

Summary PDF–71K

Select item 137784713.

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease.

A Auricchio, P Griseri, M L Carpentieri, N Betsos, A Staiano, A Tozzi, M Priolo, H Thompson, R Bocciardi, G Romeo, A Ballabio, I Ceccherini

Am J Hum Genet. 1999 Apr; 64(4): 1216–1221. doi: 10.1086/302329

PMCID:: PMC1377847

Summary PDF–316K

Select item 137695314.

Mutations of the RET-GDNF signaling pathway in Ondine's curse.

J Amiel, R Salomon, T Attié, A Pelet, H Trang, M Mokhtari, C Gaultier, A Munnich, S Lyonnet

Am J Hum Genet. 1998 Mar; 62(3): 715–717. doi: 10.1086/301759

PMCID:: PMC1376953

Summary PDF–3.0M

Select item 128830315.

Association of RET Protooncogene Codon 45 Polymorphism with Hirschsprung Disease

Guido Fitze, Matthias Schreiber, Eberhard Kuhlisch, Hans K. Schackert, Dietmar Roesner

Am J Hum Genet. 1999 Nov; 65(5): 1469–1473. doi: 10.1086/302618

PMCID:: PMC1288303

Article PDF–384K

Select item 119937316.

Identifying Candidate Hirschsprung Disease–Associated RET Variants

Grzegorz M. Burzynski, Ilja M. Nolte, Agnes Bronda, Krista K. Bos, Jan Osinga, Ivan Plaza Menacho, Bas Twigt, Saskia Maas, Alice S. Brooks, Joke B. G. M. Verheij, Charles H. C. M. Buys, Robert M. W. Hofstra

Am J Hum Genet. 2005 May; 76(5): 850–858. Published online 2005 Mar 9. doi: 10.1086/429589