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Items: 1 to 20 of 346

1.

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
2.

Tau syndrome (thrombocytopenia and absent ulnar) with mental retardation and facial dysmorphy.

Stoll C, Finck S, Janser B, Printz M, Lutz P.

Genet Couns. 1992;3(1):41-7.

PMID:
1590980
3.

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
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.

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.

Further delineation of the Yunis-Varon syndrome.

Hennekam RC, Vermeulen-Meiners C.

J Med Genet. 1989 Jan;26(1):55-8.

8.
9.

[Cardiac symptoms in 2 patients with Seckel syndrome].

Rappen U, von Brenndorff AI.

Monatsschr Kinderheilkd. 1993 Jul;141(7):584-6. German.

PMID:
8413337
10.

Schinzel-Giedion syndrome: a further cause of West syndrome.

Grosso S, Pagano C, Cioni M, Di Bartolo RM, Morgese G, Balestri P.

Brain Dev. 2003 Jun;25(4):294-8.

PMID:
12767465
11.

[Genetic morphological fatal syndromes. The Fryns syndrome].

Henkel KE, Pfeiffer RA, Stöss H.

Pathologe. 1993 Mar;14(2):92-3. German. No abstract available.

PMID:
8469652
12.

Woodhouse-Sakati syndrome: case report and symptoms review.

Medica I, Sepcić J, Peterlin B.

Genet Couns. 2007;18(2):227-31.

PMID:
17710875
13.

[Genetic morphological fatal syndrome. Smith-Lemli-Opitz syndrome].

Henkel KE, Pfeiffer RA, Stöss H.

Pathologe. 1993 Mar;14(2):91-2. German. No abstract available.

PMID:
8469651
14.

Multiple critical smallest region of overlap in monosomy 16Q syndrome?

Doco-Fenzy M, Elchardus JF, Brami G, Digeon B, Gruson N, Adnet JJ.

Genet Couns. 1994;5(1):39-44.

PMID:
8031534
15.

Antley-Bixler syndrome: case report and review of the literature.

Poddevin F, Delobel B, Courreges P, Bayart M.

Genet Couns. 1995;6(3):241-6.

PMID:
8588853
16.

MCA/MR syndrome with features of Hallermann-Streiff syndrome and 4q deficiency/14q duplication.

Fryns JP, Borghgraef M, Lemmens F, van den Berghe H.

Clin Genet. 1993 Sep;44(3):146-8.

PMID:
8275573
17.

Zimmermann-Laband syndrome in a patient with severe mental retardation.

Van Buggenhout GJ, Brunner HG, Trommelen JC, Hamel BC.

Genet Couns. 1995;6(4):321-7. Review.

PMID:
8775419
19.

Fountain syndrome: further delineation of the clinical syndrome and follow-up data.

Van Buggenhout GJ, Van Ravenswaaij-Arts CM, Renier WO, Van de Wiel MP, Trommelen JC, Pijkels E, Hamel BC, Fryns JP.

Genet Couns. 1996;7(3):177-86.

PMID:
8897038
20.

MRI of the hypophysis in a patient with the 18q- syndrome.

Bekiesiñska-Figatowska M, Walecki J.

Neuroradiology. 2001 Oct;43(10):875-6.

PMID:
11688707

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