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Items: 1 to 20 of 57

1.

Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease.

Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman Gerstein M, Piwnica-Worms K, Choyke P, Daryanani KT, Turkbey B, Fischer R, Bernardini I, Sincan M, Zhao X, Sandler NG, Roque A, Douek DC, Graf J, Huizing M, Bryant JC, Mohan P, Gahl WA, Heller T.

Gastroenterology. 2013 Jan;144(1):112-121.e2. doi: 10.1053/j.gastro.2012.09.056. Epub 2012 Oct 3.

2.

Portal hypertension in children: expert pediatric opinion on the report of the Baveno v Consensus Workshop on Methodology of Diagnosis and Therapy in Portal Hypertension.

Shneider BL, Bosch J, de Franchis R, Emre SH, Groszmann RJ, Ling SC, Lorenz JM, Squires RH, Superina RA, Thompson AE, Mazariegos GV; expert panel of the Children's Hospital of Pittsburgh of UPMC.

Pediatr Transplant. 2012 Aug;16(5):426-37. doi: 10.1111/j.1399-3046.2012.01652.x. Epub 2012 Mar 13.

PMID:
22409296
3.

Congenital hepatic fibrosis and autosomal recessive polycystic kidney disease.

Srinath A, Shneider BL.

J Pediatr Gastroenterol Nutr. 2012 May;54(5):580-7. doi: 10.1097/MPG.0b013e31824711b7. Review.

4.

Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease.

O'Brien K, Font-Montgomery E, Lukose L, Bryant J, Piwnica-Worms K, Edwards H, Riney L, Garcia A, Daryanani K, Choyke P, Mohan P, Heller T, Gahl WA, Gunay-Aygun M.

J Pediatr Gastroenterol Nutr. 2012 Jan;54(1):83-9. doi: 10.1097/MPG.0b013e318228330c.

PMID:
21694639
5.

Primary prophylaxis of variceal hemorrhage in children with portal hypertension: a framework for future research.

Ling SC, Walters T, McKiernan PJ, Schwarz KB, Garcia-Tsao G, Shneider BL.

J Pediatr Gastroenterol Nutr. 2011 Mar;52(3):254-61. doi: 10.1097/MPG.0b013e318205993a. Review.

6.

Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I).

Chetty-John S, Piwnica-Worms K, Bryant J, Bernardini I, Fischer RE, Heller T, Gahl WA, Gunay-Aygun M.

Am J Med Genet A. 2010 Oct;152A(10):2640-5. doi: 10.1002/ajmg.a.33666.

7.

Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.

Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman M, Graf J, Bryant JC, Kleta R, Garcia A, Edwards H, Piwnica-Worms K, Adams D, Bernardini I, Fischer RE, Krasnewich D, Oden N, Ling A, Quezado Z, Zak C, Daryanani KT, Turkbey B, Choyke P, Guay-Woodford LM, Gahl WA.

Clin J Am Soc Nephrol. 2010 Jun;5(6):972-84. doi: 10.2215/CJN.07141009. Epub 2010 Apr 22.

8.

Congenital Hepatic Fibrosis Overview.

Gunay-Aygun M, Gahl WA, Heller T.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2008 Dec 9 [updated 2014 Apr 24].

9.

PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.

Gunay-Aygun M, Tuchman M, Font-Montgomery E, Lukose L, Edwards H, Garcia A, Ausavarat S, Ziegler SG, Piwnica-Worms K, Bryant J, Bernardini I, Fischer R, Huizing M, Guay-Woodford L, Gahl WA.

Mol Genet Metab. 2010 Feb;99(2):160-73. doi: 10.1016/j.ymgme.2009.10.010. Epub 2009 Oct 20.

10.

Liver and kidney disease in ciliopathies.

Gunay-Aygun M.

Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):296-306. doi: 10.1002/ajmg.c.30225. Review.

11.

Nephronophthisis.

Salomon R, Saunier S, Niaudet P.

Pediatr Nephrol. 2009 Dec;24(12):2333-44. doi: 10.1007/s00467-008-0840-z. Epub 2008 Jul 8. Review.

12.

Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.

Tallila J, Jakkula E, Peltonen L, Salonen R, Kestilä M.

Am J Hum Genet. 2008 Jun;82(6):1361-7. doi: 10.1016/j.ajhg.2008.05.004.

13.

New insights into autoimmune liver diseases.

Kumagi T, Alswat K, Hirschfield GM, Heathcote J.

Hepatol Res. 2008 Aug;38(8):745-61. doi: 10.1111/j.1872-034X.2008.00366.x. Epub 2008 May 7.

PMID:
18462376
14.

An update on primary sclerosing cholangitis.

Maggs JR, Chapman RW.

Curr Opin Gastroenterol. 2008 May;24(3):377-83. doi: 10.1097/MOG.0b013e3282f9e239. Review.

PMID:
18408468
15.

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.

Bergmann C, Fliegauf M, Brüchle NO, Frank V, Olbrich H, Kirschner J, Schermer B, Schmedding I, Kispert A, Kränzlin B, Nürnberg G, Becker C, Grimm T, Girschick G, Lynch SA, Kelehan P, Senderek J, Neuhaus TJ, Stallmach T, Zentgraf H, Nürnberg P, Gretz N, Lo C, Lienkamp S, Schäfer T, Walz G, Benzing T, Zerres K, Omran H.

Am J Hum Genet. 2008 Apr;82(4):959-70. doi: 10.1016/j.ajhg.2008.02.017. Epub 2008 Mar 27.

16.

The management of portal hypertension: rational basis, available treatments and future options.

Bosch J, Berzigotti A, Garcia-Pagan JC, Abraldes JG.

J Hepatol. 2008;48 Suppl 1:S68-92. doi: 10.1016/j.jhep.2008.01.021. Epub 2008 Feb 12. Review.

17.

Long-term outcome of liver resection and transplantation for Caroli disease and syndrome.

Ulrich F, Pratschke J, Pascher A, Neumann UP, Lopez-Hänninen E, Jonas S, Neuhaus P.

Ann Surg. 2008 Feb;247(2):357-64. doi: 10.1097/SLA.0b013e31815cca88.

PMID:
18216545
18.

NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis.

Otto EA, Trapp ML, Schultheiss UT, Helou J, Quarmby LM, Hildebrandt F.

J Am Soc Nephrol. 2008 Mar;19(3):587-92. doi: 10.1681/ASN.2007040490. Epub 2008 Jan 16.

19.

When cilia go bad: cilia defects and ciliopathies.

Fliegauf M, Benzing T, Omran H.

Nat Rev Mol Cell Biol. 2007 Nov;8(11):880-93. Review. Erratum in: Nat Rev Mol Cell Biol. 2008 Jan;9(1):88.

PMID:
17955020
20.

A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome.

Auber B, Burfeind P, Herold S, Schoner K, Simson G, Rauskolb R, Rehder H.

Clin Genet. 2007 Nov;72(5):454-9.

PMID:
17935508

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