322 related articles for article (PubMed ID: 18644538)
1. Hydrometrocolpos and acute renal failure: a rare neonatal presentation of Bardet-Biedl syndrome.
Cherian MP; Al-Sanna'a NA; Ayyat FM
J Pediatr Urol; 2008 Aug; 4(4):313-6. PubMed ID: 18644538
[TBL] [Abstract][Full Text] [Related]
2. A case of McKusick-Kaufman Syndrome.
Zewdneh D; Shewarega Z
Ethiop Med J; 2011 Jul; 49(3):279-82. PubMed ID: 21991762
[TBL] [Abstract][Full Text] [Related]
3. Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome.
Hou JW
J Formos Med Assoc; 2004 Aug; 103(8):629-32. PubMed ID: 15340663
[TBL] [Abstract][Full Text] [Related]
4. A case of hydrometrocolpos and polydactyly.
Sharma D; Murki S; Pratap OT; Irfan G; Kolar G
Clin Med Insights Pediatr; 2015; 9():7-11. PubMed ID: 25635170
[TBL] [Abstract][Full Text] [Related]
5. Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.
Slavotinek AM; Searby C; Al-Gazali L; Hennekam RC; Schrander-Stumpel C; Orcana-Losa M; Pardo-Reoyo S; Cantani A; Kumar D; Capellini Q; Neri G; Zackai E; Biesecker LG
Hum Genet; 2002 Jun; 110(6):561-7. PubMed ID: 12107442
[TBL] [Abstract][Full Text] [Related]
6. Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.
David A; Bitoun P; Lacombe D; Lambert JC; Nivelon A; Vigneron J; Verloes A
J Med Genet; 1999 Aug; 36(8):599-603. PubMed ID: 10465109
[TBL] [Abstract][Full Text] [Related]
7. Bardet-Biedl Syndrome in an African-American patient: should the diagnostic criteria be expanded to include hydrometrocolpos?
Toma HS; Tan PL; McKusick VA; Katsanis N; Adams NA
Ophthalmic Genet; 2007 Jun; 28(2):95-9. PubMed ID: 17558852
[TBL] [Abstract][Full Text] [Related]
8. Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review.
Slavotinek AM; Biesecker LG
Am J Med Genet; 2000 Nov; 95(3):208-15. PubMed ID: 11102925
[TBL] [Abstract][Full Text] [Related]
9. Bardet-Biedl syndrome: a case series.
Elawad OAMA; Dafallah MA; Ahmed MMM; Albashir AAD; Abdalla SMA; Yousif HHM; Daw Elbait AAE; Mohammed ME; Ali HIH; Ahmed MMM; Mohammed NFN; Osman FHM; Mohammed MAY; Abu Shama EAE
J Med Case Rep; 2022 Apr; 16(1):169. PubMed ID: 35484558
[TBL] [Abstract][Full Text] [Related]
10. Bardet-Biedl syndrome with urogenital sinus presenting with acute renal failure in a neonate.
Bedi NK; Grover D
Indian J Pediatr; 2014 Jul; 81(7):719-21. PubMed ID: 23918321
[TBL] [Abstract][Full Text] [Related]
11. Prenatal Diagnosis of Hydro(metro)colpos: A Series of 20 Cases.
Mallmann MR; Reutter H; Mack-Detlefsen B; Gottschalk I; Geipel A; Berg C; Boemers TM; Gembruch U
Fetal Diagn Ther; 2019; 45(1):62-68. PubMed ID: 29478043
[TBL] [Abstract][Full Text] [Related]
12. A Newborn with Rare McKusick Syndrome.
Halim A; Afzal T; Fatima S; Riaz S
J Coll Physicians Surg Pak; 2018 Jun; 28(6):S140-S142. PubMed ID: 29866251
[TBL] [Abstract][Full Text] [Related]
13. Prenatal diagnosis of McKusick-Kaufman/Bardet-Biedl syndrome.
Parlakgumus A; Yalcinkaya C; Kilicdag E
BMJ Case Rep; 2011 Mar; 2011():. PubMed ID: 22699466
[TBL] [Abstract][Full Text] [Related]
14. A case of Bardet-Biedl syndrome complicated with intracranial hypertension in a Japanese child.
Saida K; Inaba Y; Hirano M; Satake W; Toda T; Suzuki Y; Sudo A; Noda S; Hidaka Y; Hirabayashi K; Imai H; Kurokawa T; Koike K
Brain Dev; 2014 Sep; 36(8):721-4. PubMed ID: 24290075
[TBL] [Abstract][Full Text] [Related]
15. Renal failure due to Bardet-Biedl syndrome. A case report.
Ulusoy S; Kaynar K; Gul S; Ukinc K
Med Princ Pract; 2004; 13(6):380-2. PubMed ID: 15467317
[TBL] [Abstract][Full Text] [Related]
16. The McKusick-Kaufman hydrometrocolpos-polydactyly syndrome--a case report.
Hsu YR; Chuang JH; Huang CB; Changchien CC
Changgeng Yi Xue Za Zhi; 1994 Jun; 17(2):173-7. PubMed ID: 8069743
[TBL] [Abstract][Full Text] [Related]
17. Renal features of Bardet Biedl syndrome: A single center experience.
Atmış B; Karabay-Bayazıt A; Melek E; Bişgin A; Anarat A
Turk J Pediatr; 2019; 61(2):186-192. PubMed ID: 31951329
[TBL] [Abstract][Full Text] [Related]
18. Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.
Schaefer E; Durand M; Stoetzel C; Doray B; Viville B; Hellé S; Danse JM; Hamel C; Bitoun P; Goldenberg A; Finck S; Faivre L; Sigaudy S; Holder M; Vincent MC; Marion V; Bonneau D; Verloes A; Nisand I; Mandel JL; Dollfus H
Eur J Med Genet; 2011; 54(2):157-60. PubMed ID: 21044901
[TBL] [Abstract][Full Text] [Related]
19. Vaginal atresia and Bardet-Biedl syndrome association: a component or a distinct entity?
Oğuzkurt P; Tanyel FC; Hiçsönmez A
J Pediatr Surg; 1999 Mar; 34(3):504-6. PubMed ID: 10211669
[TBL] [Abstract][Full Text] [Related]
20. A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome.
Hulleman JD; Nguyen A; Ramprasad VL; Murugan S; Gupta R; Mahindrakar A; Angara R; Sankurathri C; Mootha VV
Mol Vis; 2016; 22():73-81. PubMed ID: 26900326
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]