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Items: 1 to 20 of 109

1.

Schinzel-Giedion syndrome and alacrima: a case first described in 1996.

Manouvrier-Hanu S.

Am J Med Genet A. 2003 Jul 15;120A(2):292-3. No abstract available.

PMID:
12833418
2.

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
3.

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
4.

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.

5.

Congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation: the Schinzel-Giedion syndrome.

Kelley RI, Zackai EH, Charney EB.

J Pediatr. 1982 Jun;100(6):943-6. No abstract available.

PMID:
7086596
6.

Agenesis of the corpus callosum in Schinzel-Giedion syndrome associated with 47,XXY karyotype.

Ozkinay FF, Akisü M, Kültürsay N, Oral R, Tansug N, Sapmaz G.

Clin Genet. 1996 Sep;50(3):145-8.

PMID:
8946113
7.

Schinzel-Giedion syndrome with sacrococcygeal teratoma.

Sandri A, Manazza AD, Bertin D, Silengo M, Basso ME, Forni M, Madon E.

J Pediatr Hematol Oncol. 2003 Jul;25(7):558-61.

PMID:
12847324
8.

Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation.

Takeuchi A, Okamoto N, Fujinaga S, Morita H, Shimizu J, Akiyama T, Ninomiya S, Takanashi J, Kubo T.

Eur J Med Genet. 2015 Aug;58(8):369-71. doi: 10.1016/j.ejmg.2015.05.006. Epub 2015 Jun 19.

PMID:
26096993
9.

Bilateral ulna hypoplasia, club feet, and mental retardation: a new mesomelic syndrome.

Kohn G, Malinger G, el Shawwa R, Scheinfeld A, Tepper R, Ornoy A, Lachman R, Rimoin DL.

Am J Med Genet. 1995 Mar 27;56(2):132-5.

PMID:
7625433
10.

Oto-Palato-Digital syndrome with severe X-ray changes in two half brothers.

Kozlowski K, Turner G, Scougall J, Harrington J.

Pediatr Radiol. 1977 Sep 1;6(2):97-102.

PMID:
896356
11.

The Walker-Warburg phenotype and genotype among Irish Travellers.

Murphy AM, Sheridan M, O'Neill MB, Green A.

Clin Dysmorphol. 2008 Apr;17(2):119-20. doi: 10.1097/MCD.0b013e32827423de. No abstract available.

PMID:
18388782
12.

Oto-palato-digital syndrome type II. Report of two related cases.

Gendall PW, Kozlowski K.

Pediatr Radiol. 1992;22(4):267-9.

PMID:
1523048
13.

[Pelvis-shoulder dysplasia].

Kosenow W, Niederle J, Sinios A.

Fortschr Geb Rontgenstr Nuklearmed. 1970 Jul;113(1):39-48. German. No abstract available.

PMID:
4994116
14.

Clinical and radiological findings in Schinzel-Giedion syndrome.

Al-Mudaffer M, Oley C, Price S, Hayes I, Stewart A, Hall CM, Reardon W.

Eur J Pediatr. 2008 Dec;167(12):1399-407. doi: 10.1007/s00431-008-0683-4. Epub 2008 May 7.

PMID:
18461363
15.

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
16.

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
17.

Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene.

Tamhankar PM, Vasudevan L, Bansal V, Menon SR, Gawde HM, D'Souza A, Babu S, Kondurkar S, Adhia R, Das DK.

Eur J Med Genet. 2015 Aug;58(8):392-9. doi: 10.1016/j.ejmg.2015.06.002. Epub 2015 Jun 24.

PMID:
26117586
18.

Scapuloiliac dysostosis.

Blane CE, Holt JF, Vine AK.

Br J Radiol. 1984 Jun;57(678):526-8. No abstract available.

PMID:
6426572
19.

[Otopalatodigital syndrome. Apropos of 3 female cases].

Plenier V, Delaire J, David A, Cohen JY.

Rev Stomatol Chir Maxillofac. 1983;84(6):322-9. French.

PMID:
6583818
20.

Hirsutism-skeletal dysplasia-mental retardation syndrome with abnormal face and a uric acid metabolism disorder.

Wiedemann HR, Oldigs HD, Oppermann HC, Oster O.

Am J Med Genet. 1993 Jun 1;46(4):403-9.

PMID:
8357012

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