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Results: 1 to 20 of 74

1.

Optical coherence tomography and fundus autofluorescence imaging study of chorioretinal atrophy involving the macula in Alagille syndrome.

Makino S, Ohkubo Y, Tampo H.

Clin Ophthalmol. 2012;6:1445-8. doi: 10.2147/OPTH.S36146. Epub 2012 Sep 6.

PMID:
23055661
[PubMed]
Free PMC Article
2.

Whole-genome sequencing identifies recurrent somatic NOTCH2 mutations in splenic marginal zone lymphoma.

Kiel MJ, Velusamy T, Betz BL, Zhao L, Weigelin HG, Chiang MY, Huebner-Chan DR, Bailey NG, Yang DT, Bhagat G, Miranda RN, Bahler DW, Medeiros LJ, Lim MS, Elenitoba-Johnson KS.

J Exp Med. 2012 Aug 27;209(9):1553-65. doi: 10.1084/jem.20120910. Epub 2012 Aug 13.

PMID:
22891276
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Partial internal biliary diversion for Alagille syndrome: case report and review of the literature.

Sheflin-Findling S, Arnon R, Lee S, Chu J, Henderling F, Kerkar N, Iyer K.

J Pediatr Surg. 2012 Jul;47(7):1453-6. doi: 10.1016/j.jpedsurg.2012.04.008. Review.

PMID:
22813814
[PubMed - indexed for MEDLINE]
4.

Moyamoya vascular pattern in Alagille syndrome.

Rocha R, Soro I, Leitão A, Silva ML, Leão M.

Pediatr Neurol. 2012 Aug;47(2):125-8. doi: 10.1016/j.pediatrneurol.2012.04.014.

PMID:
22759690
[PubMed - indexed for MEDLINE]
5.

Liver transplantation for Alagille syndrome: the jagged edge.

Shneider BL.

Liver Transpl. 2012 Aug;18(8):878-80. doi: 10.1002/lt.23472. No abstract available.

PMID:
22639390
[PubMed - indexed for MEDLINE]
Free Article
6.

Ileal exclusion for intractable pruritus in Alagille syndrome.

Dingemann C, Baumann U, Petersen C, Lentze MJ, Ure B.

Eur J Pediatr Surg. 2012 Jun;22(3):251-3. doi: 10.1055/s-0032-1308695. Epub 2012 May 9. No abstract available.

PMID:
22573255
[PubMed - indexed for MEDLINE]
7.

Hypertension and aortorenal disease in Alagille syndrome.

Salem JE, Bruguiere E, Iserin L, Guiochon-Mantel A, Plouin PF.

J Hypertens. 2012 Jul;30(7):1300-6. doi: 10.1097/HJH.0b013e3283531e1f. Review.

PMID:
22525199
[PubMed - indexed for MEDLINE]
8.

Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features.

Lin HC, Le Hoang P, Hutchinson A, Chao G, Gerfen J, Loomes KM, Krantz I, Kamath BM, Spinner NB.

Am J Med Genet A. 2012 May;158A(5):1005-13. doi: 10.1002/ajmg.a.35255. Epub 2012 Apr 9.

PMID:
22488849
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Outcomes of liver transplantation for patients with Alagille syndrome: the studies of pediatric liver transplantation experience.

Kamath BM, Yin W, Miller H, Anand R, Rand EB, Alonso E, Bucuvalas J; Studies of Pediatric Liver Transplantation.

Liver Transpl. 2012 Aug;18(8):940-8. doi: 10.1002/lt.23437.

PMID:
22454296
[PubMed - indexed for MEDLINE]
Free Article
10.

Notch and disease: a growing field.

Louvi A, Artavanis-Tsakonas S.

Semin Cell Dev Biol. 2012 Jun;23(4):473-80. doi: 10.1016/j.semcdb.2012.02.005. Epub 2012 Feb 20. Review.

PMID:
22373641
[PubMed - indexed for MEDLINE]
11.

Notch signaling in human development and disease.

Penton AL, Leonard LD, Spinner NB.

Semin Cell Dev Biol. 2012 Jun;23(4):450-7. doi: 10.1016/j.semcdb.2012.01.010. Epub 2012 Jan 28. Review.

PMID:
22306179
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

NOTCH2 mutations in Alagille syndrome.

Kamath BM, Bauer RC, Loomes KM, Chao G, Gerfen J, Hutchinson A, Hardikar W, Hirschfield G, Jara P, Krantz ID, Lapunzina P, Leonard L, Ling S, Ng VL, Hoang PL, Piccoli DA, Spinner NB.

J Med Genet. 2012 Feb;49(2):138-44. doi: 10.1136/jmedgenet-2011-100544. Epub 2011 Dec 29.

PMID:
22209762
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Renal anomalies in Alagille syndrome: a disease-defining feature.

Kamath BM, Podkameni G, Hutchinson AL, Leonard LD, Gerfen J, Krantz ID, Piccoli DA, Spinner NB, Loomes KM, Meyers K.

Am J Med Genet A. 2012 Jan;158A(1):85-9. doi: 10.1002/ajmg.a.34369. Epub 2011 Nov 21.

PMID:
22105858
[PubMed - indexed for MEDLINE]
14.

Alagille syndrome: pathogenesis, diagnosis and management.

Turnpenny PD, Ellard S.

Eur J Hum Genet. 2012 Mar;20(3):251-7. doi: 10.1038/ejhg.2011.181. Epub 2011 Sep 21. Review.

PMID:
21934706
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Alagille syndrome and pregnancy: anesthetic management for cesarean section.

Rahmoune FC, Bruyère M, Tecsy M, Benhamou D.

Int J Obstet Anesth. 2011 Oct;20(4):355-8. doi: 10.1016/j.ijoa.2011.07.012. Epub 2011 Sep 16.

PMID:
21925870
[PubMed - indexed for MEDLINE]
16.

JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.

Guegan K, Stals K, Day M, Turnpenny P, Ellard S.

Clin Genet. 2012 Jul;82(1):33-40. doi: 10.1111/j.1399-0004.2011.01749.x. Epub 2011 Jul 31.

PMID:
21752016
[PubMed - indexed for MEDLINE]
17.

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.

Majewski J, Schwartzentruber JA, Caqueret A, Patry L, Marcadier J, Fryns JP, Boycott KM, Ste-Marie LG, McKiernan FE, Marik I, Van Esch H; FORGE Canada Consortium, Michaud JL, Samuels ME.

Hum Mutat. 2011 Oct;32(10):1114-7. doi: 10.1002/humu.21546. Epub 2011 Sep 9.

PMID:
21681853
[PubMed - indexed for MEDLINE]
18.

Alagille syndrome.

Antsaklis A, Anastasakis E, Mousiolis A, Papantoniou N, Mesogitis S, Daskalakis G.

J Obstet Gynaecol. 2011 Jul;31(5):450-1. doi: 10.3109/01443615.2011.574749. No abstract available.

PMID:
21627437
[PubMed - indexed for MEDLINE]
19.

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.

Simpson MA, Irving MD, Asilmaz E, Gray MJ, Dafou D, Elmslie FV, Mansour S, Holder SE, Brain CE, Burton BK, Kim KH, Pauli RM, Aftimos S, Stewart H, Kim CA, Holder-Espinasse M, Robertson SP, Drake WM, Trembath RC.

Nat Genet. 2011 Mar 6;43(4):303-5. doi: 10.1038/ng.779.

PMID:
21378985
[PubMed - indexed for MEDLINE]
20.

Biliary disease in children.

Goldman M, Pranikoff T.

Curr Gastroenterol Rep. 2011 Apr;13(2):193-201. doi: 10.1007/s11894-010-0169-1. Review.

PMID:
21225381
[PubMed - indexed for MEDLINE]

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