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Items: 1 to 20 of 123

1.

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
2.

The Coffin-Siris syndrome.

Schinzel A.

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

PMID:
155976
3.

Is this the Coffin-Siris syndrome or the BOD syndrome?

Brautbar A, Ragsdale J, Shinawi M.

Am J Med Genet A. 2009 Mar;149A(3):559-62. doi: 10.1002/ajmg.a.32671. No abstract available.

PMID:
19215055
4.

Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.

Zweier C, Rittinger O, Bader I, Berland S, Cole T, Degenhardt F, Di Donato N, Graul-Neumann L, Hoyer J, Lynch SA, Vlasak I, Wieczorek D.

Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):290-301. doi: 10.1002/ajmg.c.31408. Epub 2014 Aug 5. Review.

PMID:
25099957
5.

Numerous BAF complex genes are mutated in Coffin-Siris syndrome.

Miyake N, Tsurusaki Y, Matsumoto N.

Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):257-61. doi: 10.1002/ajmg.c.31406. Epub 2014 Jul 31.

PMID:
25081545
6.

Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome.

Baban A, Moresco L, Divizia MT, Rossi A, Ravazzolo R, Lerone M, De Toni T.

Am J Med Genet A. 2008 Feb 1;146A(3):384-8. doi: 10.1002/ajmg.a.32111. No abstract available.

PMID:
18203175
8.

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
9.

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
10.

The Coffin-Siris syndrome in two siblings.

Franceschini P, Cirillo Silengo M, Bianco R, Biagioli M, Guala A, Lopez Bell G.

Pediatr Radiol. 1986;16(4):330-3.

PMID:
3725452
11.

[Coffin-Siris syndrome].

Ishii T.

Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):166-7. Review. Japanese. No abstract available.

PMID:
11057181
12.

Premature thelarche in Coffin-Siris syndrome.

Brunetti-Pierri N, Esposito V, Salerno M.

Am J Med Genet A. 2003 Aug 30;121A(2):174-6. No abstract available.

PMID:
12910500
13.

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
14.

The Coffin-Siris syndrome: report of a family and further delineation.

Haspeslagh M, Fryns JP, van den Berghe H.

Clin Genet. 1984 Oct;26(4):374-8.

PMID:
6499251
15.

Medulloblastoma in association with the Coffin-Siris syndrome.

Rogers L, Pattisapu J, Smith RR, Parker P.

Childs Nerv Syst. 1988 Feb;4(1):41-4.

PMID:
2456854
16.

Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.

Miyake N, Abdel-Salam G, Yamagata T, Eid MM, Osaka H, Okamoto N, Mohamed AM, Ikeda T, Afifi HH, Piard J, van Maldergem L, Mizuguchi T, Miyatake S, Tsurusaki Y, Matsumoto N.

Am J Med Genet A. 2016 Oct;170(10):2662-70. doi: 10.1002/ajmg.a.37778. Epub 2016 Jun 5.

PMID:
27264538
17.

[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
18.

[The Coffin-Siris syndrome. Description of 4 patients and a literature review].

van Heyst AF, Kollée LA, Brunner HG.

Tijdschr Kindergeneeskd. 1993 Feb;61(1):28-33. Review. Dutch.

PMID:
8493700
19.

[Coffin-Siris syndrome. Critical study of the literature apropos of a case].

Foasso MF, Hermier M, Descos B, Collet JP, Perron F.

Pediatrie. 1983 Mar;38(2):111-7. French.

PMID:
6622139
20.

Childhood Autism in a female with Coffin Siris Syndrome.

Hersh JH, Bloom AS, Weisskopf B.

J Dev Behav Pediatr. 1982 Dec;3(4):249-52. No abstract available.

PMID:
7153373

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