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Items: 1 to 20 of 100

1.

Renal-hepatic-pancreatic dysplasia-1 diagnosed on comprehensive gene analysis.

Inaguma Y, Kaito H, Morisada N, Iijima K, Tanaka R.

Pediatr Int. 2019 Feb 7. doi: 10.1111/ped.13758. [Epub ahead of print] No abstract available.

PMID:
30734414
2.

Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping.

Fiskerstrand T, Houge G, Sund S, Scheie D, Leh S, Boman H, Knappskog PM.

J Mol Diagn. 2010 Jan;12(1):125-31. doi: 10.2353/jmoldx.2010.090033. Epub 2009 Dec 10.

3.

Placental mesenchymal dysplasia and fetal renal-hepatic-pancreatic dysplasia: androgenetic-biparental mosaicism and pathogenesis of an autosomal recessive disorder.

Kapur RP, Cole B, Zhang M, Lin J, Fligner CL.

Pediatr Dev Pathol. 2013 May-Jun;16(3):191-200. doi: 10.2350/12-12-1281-OA.1. Epub 2013 Feb 25.

PMID:
23438674
4.

Renal-hepatic-pancreatic dysplasia syndrome (Ivemark's syndrome).

Vankalakunti M, Gupta K, Kakkar N, Das A.

Diagn Pathol. 2007 Jul 2;2:24.

5.

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.

6.

Arteriohepatic dysplasia (Alagille syndrome; Watson-Alagille syndrome).

MacMillan JC, Shepherd R, Heritage M.

Baillieres Clin Gastroenterol. 1998 Jun;12(2):275-91. Review.

PMID:
9890073
7.

Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation.

Calinescu-Tuleasca AM, Bottani A, Rougemont AL, Birraux J, Gubler MC, Le Coultre C, Majno P, Mentha G, Girardin E, Belli D, Wildhaber BE.

Eur J Pediatr. 2013 Jul;172(7):877-81. doi: 10.1007/s00431-011-1552-0. Epub 2011 Aug 16.

PMID:
21845392
8.

Paucity of intrahepatic bile ducts, solitary kidney and atrophic pancreas with diabetes mellitus: atypical Alagille syndrome?

Devriendt K, Dooms L, Proesmans W, de Zegher F, Desmet V, Eggermont E.

Eur J Pediatr. 1996 Feb;155(2):87-90.

PMID:
8775219
9.

Renal-hepatic-pancreatic dysplasia: a sibship with skeletal and central nervous system anomalies and NPHP3 mutation.

Copelovitch L, O'Brien MM, Guttenberg M, Otto EA, Kaplan BS.

Am J Med Genet A. 2013 Jul;161A(7):1743-9. doi: 10.1002/ajmg.a.35958. Epub 2013 May 17.

PMID:
23686967
10.

Renal-hepatic-pancreatic dysplasia: an autosomal recessive disorder with renal and hepatic failure.

Neuhaus TJ, Sennhauser F, Briner J, Van Damme B, Leumann EP.

Eur J Pediatr. 1996 Sep;155(9):791-5.

PMID:
8874114
11.

Renal involvement and the role of Notch signalling in Alagille syndrome.

Kamath BM, Spinner NB, Rosenblum ND.

Nat Rev Nephrol. 2013 Jul;9(7):409-18. doi: 10.1038/nrneph.2013.102. Epub 2013 Jun 11. Review.

PMID:
23752887
12.

Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered.

Bernstein J, Chandra M, Creswell J, Kahn E, Malouf NN, McVicar M, Weinberg AG, Wybel RE.

Am J Med Genet. 1987 Feb;26(2):391-403.

PMID:
3812591
13.

Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy.

Peña-Padilla C, Marshall CR, Walker S, Scherer SW, Tavares-Macías G, Razo-Jiménez G, Bobadilla-Morales L, Acosta-Fernández E, Corona-Rivera A, Mendoza-Londono R, Corona-Rivera JR.

Clin Genet. 2017 Apr;91(4):640-646. doi: 10.1111/cge.12924. Epub 2017 Feb 16.

PMID:
27874174
14.

[Liver cell carcinoma as a late complication of Alagille syndrome (arterio-hepatic dysplasia)].

Wegmann W, Evison J, Schaub N, Kist L, Vest M.

Leber Magen Darm. 1996 May;26(3):157-8, 161-3. German.

PMID:
8709830
15.

[Target gene sequence capture and next generation sequencing technology to diagnose four children with Alagille syndrome].

Gao ML, Zhong XM, Ma X, Ning HJ, Zhu D, Zou JZ.

Zhonghua Er Ke Za Zhi. 2016 Jun 2;54(6):441-5. doi: 10.3760/cma.j.issn.0578-1310.2016.06.011. Chinese.

PMID:
27256232
16.

Renal, pancreatic and hepatic dysplasia sequence.

Carles D, Serville F, Dubecq JP, Gonnet JM.

Eur J Pediatr. 1988 May;147(4):431-2.

PMID:
3396599
17.

NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings.

Leeman KT, Dobson L, Towne M, Dukhovny D, Joshi M, Stoler J, Agrawal PB.

J Perinatol. 2014 May;34(5):410-1. doi: 10.1038/jp.2014.20.

PMID:
24776604
18.

Alagille Syndrome.

Diaz-Frias J, Kondamudi NP.

StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2018 Jan-.
2018 Dec 21.

19.

Hepatic Adenoma Arising in a Patient With Alagille Syndrome: A Case Report.

Pacheco MC, Monroe EJ, Horslen SP.

Pediatr Dev Pathol. 2018 Nov-Dec;21(6):585-589. doi: 10.1177/1093526618762550. Epub 2018 Mar 8.

PMID:
29516774
20.

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing.

Halbritter J, Diaz K, Chaki M, Porath JD, Tarrier B, Fu C, Innis JL, Allen SJ, Lyons RH, Stefanidis CJ, Omran H, Soliman NA, Otto EA.

J Med Genet. 2012 Dec;49(12):756-67. doi: 10.1136/jmedgenet-2012-100973.

PMID:
23188109

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