HuGE Literature Finder
Rare Disease
Records 1-8
[PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD): Genotype-phenotype correlations from a series of 308 cases to improve prenatal counselling].
Nephrologie & therapeutique 2018 Nov 14 (6): 474-477. Hamo Suzy, Bacchetta Justine, Bertholet-Thomas Aurélia, Ranchin Bruno, Cochat Pierre, Michel-Calemard Lauren |
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.
Journal of human genetics 2016 May . Melchionda Salvatore, Palladino Teresa, Castellana Stefano, Giordano Mario, Benetti Elisa, De Bonis Patrizia, Zelante Leopoldo, Bisceglia Lui |
Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.
BMC medical genetics 2015 16 (1): 116. Obeidova Lena, Seeman Tomas, Elisakova Veronika, Reiterova Jana, Puchmajerova Alena, Stekrova Jit |
Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.
Pediatric nephrology (Berlin, Germany) 2014 Feb 29 (2): 223-34. Krall Paola, Pineda Cristina, Ruiz Patricia, Ejarque Laia, Vendrell Teresa, Camacho Juan Antonio, Mendizábal Santiago, Oliver Artur, Ballarín José, Torra Roser, Ars Elisab |
Germline PKHD1 mutations are protective against colorectal cancer.
Human genetics 2011 Mar 129 (3): 345-9. Ward Christopher J, Wu Yanhong, Johnson Ruth A, Woollard John R, Bergstralh Eric J, Cicek Mine S, Bakeberg Jason, Rossetti Sandro, Heyer Christina M, Petersen Gloria M, Lindor Noralene M, Thibodeau Stephen N, Harris Peter C, Torres Vicente E, Hogan Marie C, Boardman Lisa |
Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.
Clinical journal of the American Society of Nephrology : CJASN 2010 Jun 5 (6): 972-84. Gunay-Aygun Meral, Font-Montgomery Esperanza, Lukose Linda, Tuchman Maya, Graf Jennifer, Bryant Joy C, Kleta Robert, Garcia Angelica, Edwards Hailey, Piwnica-Worms Katie, Adams David, Bernardini Isa, Fischer Roxanne E, Krasnewich Donna, Oden Neal, Ling Alex, Quezado Zenaide, Zak Colleen, Daryanani Kailash T, Turkbey Baris, Choyke Peter, Guay-Woodford Lisa M, Gahl William |
Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.
Kidney international 2010 Feb 77 (4): 350-8. Denamur Erick, Delezoide Anne-Lise, Alberti Corinne, Bourillon Agnès, Gubler Marie-Claire, Bouvier Raymonde, Pascaud Olivier, Elion Jacques, Grandchamp Bernard, Michel-Calemard Laurence, Missy Pascale, Zaccaria Isabelle, Le Nagard Hervé, Gerard Bénédicte, Loirat Chantal, , Barbet J, Beaufrère A M, Berchel C, Bessières B, Boudjemaa S, Buenerd A, Carles D, Clemenson A, Dechelotte P, Devisme L, Dijoud F, Espérandieu O, Fallet C, Gonzalès M, Hillion Y, Jacob B, Joubert M, Kermanach P, Lallemand A, Laquerrière A, Laurent N, Liprandi A, Loeuillet L, Loget P, Martinovic J, Ménez F, Narcy F, Roux J J, Rouleau-Dubois C, Sinico M, Tantau J, Wann A |
Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD).
Journal of medical genetics 2005 Oct 42 (10): e63. Bergmann C, Küpper F, Schmitt C P, Vester U, Neuhaus T J, Senderek J, Zerres |
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- Page last updated:Mar 08, 2021
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