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Items: 1 to 20 of 119

1.

Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.

Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, Donnai D, Raymond FL, Walsh CA, Donahoe PK, Pober BR.

Am J Med Genet A. 2008 Jul 15;146A(14):1842-7. doi: 10.1002/ajmg.a.32381.

2.

Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature.

Khalifa O, Al-Sahlawi Z, Imtiaz F, Ramzan K, Allam R, Al-Mostafa A, Abdel-Fattah M, Abuharb G, Nester M, Verloes A, Al-Zaidan H.

Eur J Med Genet. 2015 May;58(5):293-9. doi: 10.1016/j.ejmg.2014.12.008. Review.

PMID:
25682901
3.

Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome.

Schrauwen I, Sommen M, Claes C, Pinner J, Flaherty M, Collins F, Van Camp G.

Clin Genet. 2014 Sep;86(3):282-6. doi: 10.1111/cge.12265.

PMID:
23992033
4.

A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis.

Pober BR, Longoni M, Noonan KM.

Birth Defects Res A Clin Mol Teratol. 2009 Jan;85(1):76-81. doi: 10.1002/bdra.20534. Review.

5.

In-depth phenotyping of a Donnai-Barrow patient helps clarify proximal tubule dysfunction.

Dachy A, Paquot F, Debray G, Bovy C, Christensen EI, Collard L, Jouret F.

Pediatr Nephrol. 2015 Jun;30(6):1027-31. doi: 10.1007/s00467-014-3037-7.

PMID:
25822460
6.

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.

Kantarci S, Al-Gazali L, Hill RS, Donnai D, Black GC, Bieth E, Chassaing N, Lacombe D, Devriendt K, Teebi A, Loscertales M, Robson C, Liu T, MacLaughlin DT, Noonan KM, Russell MK, Walsh CA, Donahoe PK, Pober BR.

Nat Genet. 2007 Aug;39(8):957-9.

7.

A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation.

Stora S, Conte M, Chouery E, Richa S, Jalkh N, Gillart AC, Joannis AL, Mégarbané A.

Eur J Med Genet. 2009 Sep-Oct;52(5):341-3. doi: 10.1016/j.ejmg.2009.06.005.

PMID:
19577669
8.

Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2.

López-Garrido MP, Campos-Mollo E, Harto MA, Escribano J.

Clin Genet. 2009 Dec;76(6):552-7. doi: 10.1111/j.1399-0004.2009.01242.x.

PMID:
19807744
9.

Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.

Thompson DA, McHenry CL, Li Y, Richards JE, Othman MI, Schwinger E, Vollrath D, Jacobson SG, Gal A.

Am J Hum Genet. 2002 Jan;70(1):224-9.

10.

Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration.

Storm T, Tranebjærg L, Frykholm C, Birn H, Verroust PJ, Nevéus T, Sundelin B, Hertz JM, Holmström G, Ericson K, Christensen EI, Nielsen R.

Nephrol Dial Transplant. 2013 Mar;28(3):585-91. doi: 10.1093/ndt/gfs462.

PMID:
23048173
11.

Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1.

Zeng WQ, Gao H, Brueton L, Hutchin T, Gray G, Chakrapani A, Olpin S, Shih VE.

Am J Med Genet A. 2006 May 1;140(9):1004-9.

PMID:
16575891
12.

Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

Baskin B, Geraghty M, Ray PN.

Am J Med Genet A. 2010 Jul;152A(7):1808-11. doi: 10.1002/ajmg.a.33462.

PMID:
20583174
13.

Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa.

Fassihi H, Wessagowit V, Ashton GH, Moss C, Ward R, Denyer J, Mellerio JE, McGrath JA.

Clin Exp Dermatol. 2005 Jan;30(1):71-4.

PMID:
15663509
15.

Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis.

Douglas GV, Wiszniewska J, Lipson MH, Witt DR, McDowell T, Sifry-Platt M, Hirano M, Craigen WJ, Wong LJ.

J Hum Genet. 2011 Dec;56(12):834-9. doi: 10.1038/jhg.2011.112.

PMID:
22011815
16.

Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency.

Prando C, Boisson-Dupuis S, Grant AV, Kong XF, Bustamante J, Feinberg J, Chapgier A, Rose Y, Jannière L, Rizzardi E, Zhang Q, Shanahan CM, Viollet L, Lyonnet S, Abel L, Ruga EM, Casanova JL.

Am J Med Genet A. 2010 Mar;152A(3):622-9. doi: 10.1002/ajmg.a.33291. Review.

17.

Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array.

Tamura M, Isojima T, Kawashima M, Yoshida H, Yamamoto K, Kitaoka T, Namba N, Oka A, Ozono K, Tokunaga K, Kitanaka S.

PLoS One. 2015 Jul 8;10(7):e0131157. doi: 10.1371/journal.pone.0131157.

18.

Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1.

Nimmo G, Monsonego S, Descartes M, Franklin J, Steinberg S, Braverman N.

Am J Med Genet A. 2010 Jul;152A(7):1812-7. doi: 10.1002/ajmg.a.33489.

PMID:
20583171
19.

Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations.

Spiekerkoetter U, Eeds A, Yue Z, Haines J, Strauss AW, Summar M.

Hum Mutat. 2002 Dec;20(6):447-51.

PMID:
12442268
20.

Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders.

Xiao P, Liu P, Weber JL, Papasian CJ, Recker RR, Deng HW.

Hum Mutat. 2006 Feb;27(2):133-7.

PMID:
16429396

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