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Items: 1 to 20 of 445

1.

Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?

Titomanlio L, Bennaceur S, Bremond-Gignac D, Baumann C, Dupuy O, Verloes A.

Am J Med Genet A. 2005 Sep 1;137A(3):332-5. Review.

PMID:
16096999
2.

Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity?

Al Kaissi A, Klaushofer K, Safi H, Chehida FB, Ghachem MB, Chaabounni M, Hennekam RC.

Am J Med Genet A. 2007 Feb 15;143(4):349-54.

PMID:
17236195
3.

Malpuech syndrome: three patients and a review.

Kerstjens-Frederikse WS, Brunner HG, van Dael CM, van Essen AJ.

Am J Med Genet A. 2005 May 1;134(4):450-3. Review.

PMID:
15793834
4.

Craniosynostosis and lid anomalies: report of a girl with Michels syndrome.

Cunniff C, Jones KL.

Am J Med Genet. 1990 Sep;37(1):28-30.

PMID:
2240039
5.

Michels syndrome in a Brazilian girl born to consanguineous parents.

Guion-Almeida ML, Rodini ES.

Am J Med Genet. 1995 Jul 3;57(3):377-9. Review.

PMID:
7677137
6.

Two sibs with Malpuech syndrome.

Crisponi G, Marras AR, Corrias A.

Am J Med Genet. 1999 Sep 17;86(3):294-9.

PMID:
10482884
7.

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.

Urquhart J, Roberts R, de Silva D, Shalev S, Chervinsky E, Nampoothiri S, Sznajer Y, Revencu N, Gunasekera R, Suri M, Ellingford J, Williams S, Bhaskar S, Clayton-Smith J.

Am J Med Genet A. 2016 May;170A(5):1216-24. doi: 10.1002/ajmg.a.37564. Epub 2016 Jan 20.

PMID:
26789649
8.

A diagnostic conundrum: two siblings with features overlapping the Kabuki and Malpuech syndromes. A new MCA syndrome?

Galán-Gómez E, Carbonell-Pérez JM, Cardesa-García JJ, Val-Sánchez de León JM, Campo-Sampedro FM, Martínez-Frías ML, Frías JL.

Am J Med Genet A. 2004 Mar 15;125A(3):306-9.

PMID:
14994242
9.

Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH.

Priolo M, Ciccone R, Bova I, Campolo G, Laganà C, Zuffardi O.

Eur J Med Genet. 2007 Mar-Apr;50(2):139-43. Epub 2006 Oct 28.

PMID:
17140870
10.

MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.

Sirmaci A, Walsh T, Akay H, Spiliopoulos M, Sakalar YB, Hasanefendioğlu-Bayrak A, Duman D, Farooq A, King MC, Tekin M.

Am J Hum Genet. 2010 Nov 12;87(5):679-86. doi: 10.1016/j.ajhg.2010.09.018. Epub 2010 Oct 28.

11.
12.

Confirmation of Kapur-Toriello syndrome in an Italian patient.

Zelante L, Candela MA, Savoia A, Gasparini P.

Clin Dysmorphol. 1999 Apr;8(2):151-3.

PMID:
10319207
13.

Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome.

Kennedy SJ, Teebi AS.

Am J Med Genet A. 2004 Aug 15;129A(1):73-6.

PMID:
15266620
15.

Median cleft face syndrome.

Edwards WC, Askew W, Weisskopf B.

Am J Ophthalmol. 1971 Jul 30;72(1):202-5. No abstract available.

PMID:
5571207
16.
17.

Craniosynostosis associated with limb reduction malformations and cleft lip/palate: a distinct syndrome.

Ladda RL, Stoltzfus E, Gordon SL, Graham WP.

Pediatrics. 1978 Jan;61(1):12-5.

PMID:
263842
18.

Multiple periorbital dermoid cysts, clefting and mental retardation: a new malformation syndrome?

Fodor L, Baruch-Gershoni R, Ullmann Y.

Clin Dysmorphol. 2006 Jul;15(3):161-3.

PMID:
16760736
20.

Multidisciplinary management of Opitz G BBB syndrome.

Parashar SY, Anderson PJ, Cox TC, McLean N, David DJ.

Ann Plast Surg. 2005 Oct;55(4):402-7.

PMID:
16186708

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