110 related articles for article (PubMed ID: 24397080)
1. McKusik Kaufman syndrome.
Malik FR; Tahir A; Bashir H
J Ayub Med Coll Abbottabad; 2012; 24(2):154-5. PubMed ID: 24397080
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Prenatal ultrasonography and postnatal follow-up of a case of McKusick-Kaufman syndrome.
Tsai HF; Wu MH; Cheng YC; Chang CH; Chang FM
Taiwan J Obstet Gynecol; 2014 Jun; 53(2):241-4. PubMed ID: 25017277
[TBL] [Abstract][Full Text] [Related]
5. [Transversal vaginal septum in two months old patient--case report].
Kedikova S; Shivachev H; Brankov O; Filipov E; Vazarova R
Akush Ginekol (Sofiia); 2012; 51(1):41-5. PubMed ID: 22639779
[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. Fetal hydrometrocolpos with pre-axial mirror polydactyly as a new variant of McKusick-Kaufman syndrome.
Traisrisilp K; Nunthapiwat S; Luewan S; Tongsong T
J Clin Ultrasound; 2021 Jan; 49(1):62-65. PubMed ID: 32537787
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. [McKrittick-Wheelock syndrome. Report of one case].
Kral A; Vega J
Rev Med Chil; 2017 Jul; 145(7):950-953. PubMed ID: 29182206
[TBL] [Abstract][Full Text] [Related]
10. BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
Deveault C; Billingsley G; Duncan JL; Bin J; Theal R; Vincent A; Fieggen KJ; Gerth C; Noordeh N; Traboulsi EI; Fishman GA; Chitayat D; Knueppel T; Millán JM; Munier FL; Kennedy D; Jacobson SG; Innes AM; Mitchell GA; Boycott K; Héon E
Hum Mutat; 2011 Jun; 32(6):610-9. PubMed ID: 21344540
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. [A rare cause of hyponatraemia: McKittrick-Wheelock syndrome. Case report].
Nagy R; Márkus C; Jáger L; Tóth C; Lőcsei Z
Orv Hetil; 2017 May; 158(18):711-714. PubMed ID: 28468538
[TBL] [Abstract][Full Text] [Related]
13. Early abdomino-perineal pull-through vaginoplasty.
Ciftci I; Tastekin A; Annagur A; Koplay M
Afr J Paediatr Surg; 2013; 10(2):188-91. PubMed ID: 23860075
[TBL] [Abstract][Full Text] [Related]
14. Hydrometrocolpos Presenting as a Huge Abdominal Swelling and Obstructive Uropathy in a 4 Day Old Newborn: A Diagnostic Challenge.
Tilahun B; Woldegebriel F; Wolde Z; Tadele H
Ethiop J Health Sci; 2016 Jan; 26(1):89-91. PubMed ID: 26949322
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Recurrent Urinary Tract Infections in a Female Child With Polydactyly and a Pelvic Mass: Consider the McKusick-Kaufman Syndrome.
Adam A; Hellig J; Mahomed N; Lambie L
Urology; 2017 May; 103():224-226. PubMed ID: 28153592
[TBL] [Abstract][Full Text] [Related]
17. Newborn Imperforate Hymen Resulting in Hydronephrosis.
Peleg D; Shinwell ES
J Pediatr; 2019 Apr; 207():258. PubMed ID: 30922498
[No Abstract] [Full Text] [Related]
18. Bardet-Biedl syndrome: delayed diagnosis in a child with Hirschsprung disease.
Işlek I; Küçüködük S; Erkan D; Bernay F; Kalayci AG; Görk S; Kandemir B; Gürses N
Clin Dysmorphol; 1996 Jul; 5(3):271-3. PubMed ID: 8818459
[No Abstract] [Full Text] [Related]
19. McKusik-Kaufman syndrome: prenatal diagnosis, genetics and follow up.
Gaucherand P; Vavasseur-Monot C; Ollagnon E; Boisson C; Labaune JM; Basset T; Yared G
Prenat Diagn; 2002 Nov; 22(11):1048-50. PubMed ID: 12424774
[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]