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Items: 1 to 20 of 172

2.
4.

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
5.

Schinzel-Giedion syndrome.

Verloes A, Moës D, Palumbo L, Elmer C, François A, Bricteux G.

Eur J Pediatr. 1993 May;152(5):421-3.

PMID:
8319710
6.

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.

7.

Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis.

Albano LM, Sakae PP, Mataloun MM, Leone CR, Bertola DR, Kim CA.

Rev Hosp Clin Fac Med Sao Paulo. 2004 Apr;59(2):89-92. Epub 2004 Apr 26.

8.

Schinzel-Giedion syndrome: evidence for a neurodegenerative process.

Shah AM, Smith MF, Griffiths PD, Quarrell OW.

Am J Med Genet. 1999 Feb 12;82(4):344-7.

PMID:
10051170
9.

Schinzel-Giedion syndrome: report of two sibs.

Antich J, Manzanares R, Camarasa F, Krauel X, Vila J, Cusi V.

Am J Med Genet. 1995 Oct 23;59(1):96-9.

PMID:
8849020
10.

A Croatian case of the Schinzel-Giedion syndrome.

Culić V, Resic B, Oorthuys JW, Overweg-Plandsoen WC, Hennekam RC.

Genet Couns. 1996;7(1):21-5.

PMID:
8652084
11.

Schinzel-Giedion syndrome.

Alavi S, Kher A, Bharucha BA.

Indian Pediatr. 1994 Sep;31(9):1111-4. No abstract available.

PMID:
7883373
12.

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
13.

Schinzel-Giedion syndrome. A patient with hypothyroidism and diabetes insipidus.

Santos H, Cordeiro I, Medeira A, Mendonça E, Antunes NL, Rosa FC.

Genet Couns. 1994;5(2):187-9.

PMID:
7917131
14.

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
15.

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
16.

Further delineation of the KBG syndrome.

Devriendt K, Holvoet M, Fryns JP.

Genet Couns. 1998;9(3):191-4.

PMID:
9777340
17.

Schinzel-Giedion syndrome and congenital megacalyces.

Herman TE, Sweetser DA, McAlister WH, Dowton SB.

Pediatr Radiol. 1993;23(2):111-2.

PMID:
8516031
18.

Schinzel-Giedion syndrome: autopsy report and additional clinical manifestations.

Rodríguez JI, Jiménez-Heffernan JA, Leal J.

Am J Med Genet. 1994 Dec 1;53(4):374-7.

PMID:
7864048
19.

SHORT syndrome: distinctive radiographic features.

Haan E, Morris L.

Clin Dysmorphol. 1998 Apr;7(2):103-7. No abstract available.

PMID:
9571279
20.

Hypertrichosis, pigmentary retinopathy, and facial anomalies: a new syndrome?

Pivnick EK, Wilroy RS, Martens PR, Teather TC, Hashimoto K.

Am J Med Genet. 1996 Apr 24;62(4):386-90.

PMID:
8723069

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