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Items: 1 to 20 of 88

1.

Genetic drift. Letter from Baghdad: Coffin-Siris syndrome in a girl with absent kidney.

Al Mosawi AJ.

Am J Med Genet A. 2006 Aug 15;140(16):1789-90. No abstract available.

PMID:
16830329
2.

Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient.

de Carvalho DR, Rossi NF, Schellini S, Moretti-Ferreira D, Richieri-Costa A.

Am J Med Genet A. 2008 Aug 15;146A(16):2134-7. doi: 10.1002/ajmg.a.32428.

PMID:
18627062
3.

Autosomal dominant syndrome resembling Coffin-Siris syndrome.

Flynn MA, Milunsky JM.

Am J Med Genet A. 2006 Jun 15;140(12):1326-30.

PMID:
16691594
4.

Familial multiple ventricular extrasystoles, short stature, craniofacial abnormalities and digital hypoplasia: a further case of Stoll syndrome?

Mercer CL, Keeton B, Dennis NR.

Clin Dysmorphol. 2008 Apr;17(2):91-3. doi: 10.1097/MCD.0b013e3282efefc9.

PMID:
18388777
5.

Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study.

Fleck BJ, Pandya A, Vanner L, Kerkering K, Bodurtha J.

Am J Med Genet. 2001 Feb 15;99(1):1-7. Review.

PMID:
11170086
6.

[Polyphalangism--a rare anomaly].

Almasi A, Solgaard S.

Ugeskr Laeger. 2006 Jun 19;168(25):2472-3. Danish.

PMID:
16824375
7.

Multiple synostosis syndrome.

Hachimi H, Tahiri L, Ghani N, Ouldim K, Harzy T.

Joint Bone Spine. 2012 Mar;79(2):198. doi: 10.1016/j.jbspin.2011.07.012. Epub 2011 Dec 13. No abstract available.

PMID:
22169575
8.

Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome.

McPherson EW, Laneri G, Clemens MM, Kochmar SJ, Surti U.

Am J Med Genet. 1997 Sep 5;71(4):430-3.

PMID:
9286450
9.

Candidate region for Coffin-Siris syndrome at 7q32-->34.

McGhee EM, Klump CJ, Bitts SM, Cotter PD, Lammer EJ.

Am J Med Genet. 2000 Jul 31;93(3):241-3.

PMID:
10925390
10.

Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature.

Alessandri L, Brayer C, Attali T, Samperiz S, Tiran-Rajaofera I, Ramful D, Pilorget H.

Genet Couns. 2005;16(4):363-70. Review.

PMID:
16440878
11.

Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome.

Bonioli E, Palmieri A, Bertola A, Bellini C.

Genet Couns. 1995;6(4):309-12.

PMID:
8775417
12.

Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-->qter).

Rump P, Dijkhuizen T, Sikkema-Raddatz B, Lemmink HH, Vos YJ, Verheij JB, van Ravenswaaij CM.

Clin Genet. 2008 Nov;74(5):455-62. doi: 10.1111/j.1399-0004.2008.01064.x. Epub 2008 Jul 21.

PMID:
18651844
13.

The Coffin-Siris syndrome.

Schinzel A.

Acta Paediatr Scand. 1979 May;68(3):449-52.

PMID:
155976
14.

[Coffin-Siris syndrome in a 5-year-old girl].

Meinecke P, Engelbrecht R, Schaefer E.

Monatsschr Kinderheilkd. 1986 Sep;134(9):692-5. German.

PMID:
3785238
15.

Daughter and her mildly affected father with Keipert syndrome.

Dumic M, Kokic DD, Matic T, Potocki K.

Am J Med Genet A. 2006 Nov 15;140(22):2488-92.

PMID:
17036315
16.

Variant of Coffin-Siris syndrome or previously undescribed syndrome?

Braun-Quentin C, Kapferer L, Kotzot D.

Am J Med Genet. 1996 Sep 6;64(4):568-72.

PMID:
8870924
17.

Hypoglycemia in Coffin-Siris syndrome.

Imaizumi K, Nakamura M, Masuno M, Makita Y, Kuroki Y.

Am J Med Genet. 1995 Oct 23;59(1):49-50.

PMID:
8849011
18.

Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome.

Rabe P, Haverkamp F, Emons D, Rosskamp R, Zerres K, Passarge E.

Am J Med Genet. 1991 Dec 1;41(3):350-4.

PMID:
1724113
19.

Gillespie syndrome: additional findings and parental consanguinity.

Luquetti DV, Oliveira-Sobrinho RP, Gil-da-Silva-Lopes VL.

Ophthalmic Genet. 2007 Jun;28(2):89-93.

PMID:
17558851
20.

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