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Items: 1 to 20 of 106

1.

Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome.

Kos S, Roth K, Korinth D, Zeilinger G, Eich G.

Pediatr Radiol. 2008 Aug;38(8):902-6. doi: 10.1007/s00247-008-0870-5. Epub 2008 May 14.

PMID:
18478223
2.

Genitourinary malformations as a feature of the Pallister-Hall syndrome.

McCann E, Fryer AE, Craigie R, Baillie C, Ba'ath ME, Selby A, Biesecker LG.

Clin Dysmorphol. 2006 Apr;15(2):75-9.

PMID:
16531732
3.

Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity?

Unsinn KM, Neu N, Krejci A, Posch A, Menardi G, Gassner I.

J Med Genet. 1995 Feb;32(2):125-8.

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. doi: 10.1016/j.tjog.2012.07.042.

5.

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.

PMID:
8069743
6.

Prenatal diagnosis of McKusick-Kaufman/Bardet-Biedl syndrome.

Parlakgumus A, Yalcinkaya C, Kilicdag E.

BMJ Case Rep. 2011 Mar 24;2011. pii: bcr0220113808. doi: 10.1136/bcr.02.2011.3808.

7.

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 Mar-Apr;54(2):157-60. doi: 10.1016/j.ejmg.2010.10.004. Epub 2010 Oct 29.

PMID:
21044901
8.

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.

9.

McKusick Kaufman syndrome, complications arising at puberty.

Lueth ET, Wood KE.

J Pediatr Adolesc Gynecol. 2014 Dec;27(6):e125-6. doi: 10.1016/j.jpag.2013.10.002. Epub 2014 Mar 19.

PMID:
24656697
10.

Cochlear abnormality in a case of Pallister-Hall syndrome.

Avula S, Alam N, Roberts E.

Pediatr Radiol. 2012 Dec;42(12):1502-5. doi: 10.1007/s00247-012-2458-3. Epub 2012 Aug 14.

PMID:
22890695
11.

A case of McKusick-Kaufman Syndrome.

Zewdneh D, Shewarega Z.

Ethiop Med J. 2011 Jul;49(3):279-82.

PMID:
21991762
12.

Bifid epiglottis: syndromic constituent rather than isolated anomaly.

Tsurumi H, Ito M, Ishikura K, Hataya H, Ikeda M, Honda M, Nishimura G.

Pediatr Int. 2010 Oct;52(5):723-8. doi: 10.1111/j.1442-200X.2010.03096.x.

PMID:
20149127
13.

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome.

Kang S, Graham JM Jr, Olney AH, Biesecker LG.

Nat Genet. 1997 Mar;15(3):266-8.

PMID:
9054938
14.

Fetal MRI of a hypothalamic hamartoma in Pallister-Hall syndrome.

Celedin S, Kau T, Gasser J, Kraschl R, Sinzig M.

Pediatr Neurol. 2010 Jan;42(1):59-60. doi: 10.1016/j.pediatrneurol.2009.08.003.

PMID:
20004865
15.

Early abdomino-perineal pull-through vaginoplasty.

Ciftci I, Tastekin A, Annagur A, Koplay M.

Afr J Paediatr Surg. 2013 Apr-Jun;10(2):188-91. doi: 10.4103/0189-6725.115053.

16.
17.

Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome.

Hou JW.

J Formos Med Assoc. 2004 Aug;103(8):629-32.

PMID:
15340663
18.

Pallister-Hall syndrome: clinical and MR features.

Kuo JS, Casey SO, Thompson L, Truwit CL.

AJNR Am J Neuroradiol. 1999 Nov-Dec;20(10):1839-41.

19.

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.

PMID:
17558852
20.

Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature.

Narumi Y, Kosho T, Tsuruta G, Shiohara M, Shimazaki E, Mori T, Shimizu A, Igawa Y, Nishizawa S, Takagi K, Kawamura R, Wakui K, Fukushima Y.

Am J Med Genet A. 2010 Dec;152A(12):3143-7. doi: 10.1002/ajmg.a.33720. Review.

PMID:
21108399

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