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Items: 1 to 20 of 54

1.

Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria.

Lehman AM, McFadden D, Pugash D, Sangha K, Gibson WT, Patel MS.

Am J Med Genet A. 2008 May 15;146A(10):1299-306. doi: 10.1002/ajmg.a.32277.

PMID:
18398855
2.

Three new cases of the Schinzel-Giedion syndrome and review of the literature.

Labrune P, Lyonnet S, Zupan V, Imbert MC, Goutieres F, Hubert P, Le Merrer M.

Am J Med Genet. 1994 Mar 1;50(1):90-3. Review.

PMID:
8160760
3.

Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.

Leonardi ML, Pai GS, Wilkes B, Lebel RR.

Am J Med Genet. 2001 Aug 15;102(3):237-42. Review.

PMID:
11484200
4.

The Schinzel-Giedion syndrome. A case report and review of the literature.

Pul M, Yilmaz N, Komsuoglu B.

Clin Pediatr (Phila). 1990 Apr;29(4):235-9. Review.

PMID:
2184969
5.

A patient with Schinzel-Giedion syndrome and a review of 20 patients.

Okamoto N, Takeuchi M, Kitajima H, Hosokawa S.

Jpn J Hum Genet. 1995 Jun;40(2):189-93. Review.

PMID:
7662999
6.

Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases.

Minn D, Christmann D, De Saint-Martin A, Alembik Y, Eliot M, Mack G, Fischbach M, Flament J, Veillon F, Dollfus H.

Am J Med Genet. 2002 May 1;109(3):211-7. Review.

PMID:
11977181
7.

Schinzel-Giedion syndrome: further delineation of the phenotype.

Elliott AM, Meagher-Villemure K, Oudjhane K, der Kaloustian VM.

Clin Dysmorphol. 1996 Apr;5(2):135-42. Review.

PMID:
8723563
8.

Schinzel-Giedion syndrome.

Touge H, Fujinaga T, Okuda M, Aoshi H.

Int J Urol. 2001 May;8(5):237-41. Review.

9.

The Schinzel-Giedion syndrome.

al-Gazali LI, Farndon P, Burn J, Flannery DB, Davison C, Mueller RF.

J Med Genet. 1990 Jan;27(1):42-7. Review. No abstract available.

10.

[Schinzel-Giedion syndrome].

Okamoto N.

Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):35-7. Review. Japanese. No abstract available.

PMID:
11057134
11.

3C syndrome: third occurrence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome).

Verloes A, Dresse MF, Jovanovic M, Dodinval P, Geubelle F.

Clin Genet. 1989 Mar;35(3):205-8. Review.

PMID:
2650935
12.

Further delineation of Frank-ter Haar syndrome.

Maas SM, Kayserili H, Lam J, Apak MY, Hennekam RC.

Am J Med Genet A. 2004 Dec 1;131(2):127-33. Review.

PMID:
15523657
13.

[Schinzel-Giedion syndrome].

Kim KC.

Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):611-2. Review. Japanese. No abstract available.

PMID:
11528923
14.

Central nervous system malformations, dense bones and facial dysmorphism: a new autosomal recessive syndrome.

al-Gazali LI, Bakalinova D, Bakir M.

Clin Dysmorphol. 1998 Apr;7(2):123-6. Review.

PMID:
9571283
15.

Provisional new syndrome of MR/MCA with evolving phenotype.

Lacassie Y, Morava E, LaMotta I.

Am J Med Genet. 2002 Nov 22;113(2):213-7. Review.

PMID:
12407715
16.

New cases of Bohring-Opitz syndrome, update, and critical review of the literature.

Bohring A, Oudesluijs GG, Grange DK, Zampino G, Thierry P.

Am J Med Genet A. 2006 Jun 15;140(12):1257-63. Review.

PMID:
16691589
17.

KBG syndrome.

Brancati F, Sarkozy A, Dallapiccola B.

Orphanet J Rare Dis. 2006 Dec 12;1:50. Review.

18.

A new case of Okamoto syndrome.

Wallerstein R, Shih LY, Fong MH, Zheng S, Poon E.

Clin Dysmorphol. 2005 Apr;14(2):85-7. Review.

PMID:
15770130
19.

Delineation of the proximal 3q microdeletion syndrome.

Simovich MJ, Bland SD, Peiffer DA, Gunderson KL, Cheung SW, Yatsenko SA, Shinawi M.

Am J Med Genet A. 2008 Jul 1;146A(13):1729-35. doi: 10.1002/ajmg.a.32292. Review.

PMID:
18536049
20.

Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: expanding the phenotype of Cumming syndrome.

Ming JE, McDonald-McGinn DM, Markowitz RI, Ruchelli E, Zackai EH.

Am J Med Genet. 1997 Dec 31;73(4):419-24. Review.

PMID:
9415469
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