120 related articles for article (PubMed ID: 17162528)
21. Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2.
Tegay DH; Chan KK; Leung L; Wang C; Burkett S; Stone G; Stanyon R; Toriello HV; Hatchwell E
Clin Genet; 2009 Mar; 75(3):259-64. PubMed ID: 19170718
[TBL] [Abstract][Full Text] [Related]
22. [Retinitis pigmentosa, terminal renal insufficiency and Caroli syndrome: new associations with Opitz trigonocephaly syndrome].
Weber P; Kuwertz-Bröking E; Majewski F; Zimmer KP; Bulla M
Klin Padiatr; 2000; 212(1):31-4. PubMed ID: 10719681
[TBL] [Abstract][Full Text] [Related]
23. Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-->qter).
Rump P; Dijkhuizen T; Sikkema-Raddatz B; Lemmink HH; Vos YJ; Verheij JB; van Ravenswaaij CM
Clin Genet; 2008 Nov; 74(5):455-62. PubMed ID: 18651844
[TBL] [Abstract][Full Text] [Related]
24. Macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) in two unrelated patients: delineation of a newly recognized overgrowth syndrome.
Moretti-Ferreira D; Koiffmann CP; Listik M; Setian N; Wajntal A
Am J Med Genet; 1993 Jun; 46(5):555-8. PubMed ID: 8322820
[TBL] [Abstract][Full Text] [Related]
25. [Jaffe-Campanacci syndrome. Report of a case].
Boivin C; Kerbrat JB; Michot C; Peron JM; Hemet J
Ann Pathol; 1994; 14(2):108-11. PubMed ID: 8198635
[TBL] [Abstract][Full Text] [Related]
26. Restrictive dermopathy: a rare laminopathy.
Thill M; Nguyen TD; Wehnert M; Fischer D; Hausser I; Braun S; Jackisch C
Arch Gynecol Obstet; 2008 Sep; 278(3):201-8. PubMed ID: 18470519
[TBL] [Abstract][Full Text] [Related]
27. Floating-Harbor syndrome in two sisters: autosomal recessive inheritance or germinal mosaicism?
Ioan DM; Fryns JP
Genet Couns; 2003; 14(4):431-3. PubMed ID: 14738118
[TBL] [Abstract][Full Text] [Related]
28. Cerebral defects and nephrogenic diabetes insipidus with the ARC syndrome: additional findings or a new syndrome (ARCC-NDI)?
Coleman RA; Van Hove JL; Morris CR; Rhoads JM; Summar ML
Am J Med Genet; 1997 Oct; 72(3):335-8. PubMed ID: 9332665
[TBL] [Abstract][Full Text] [Related]
29. Café au lait macules and cerebro-oculo-facio-skeletal syndrome: a novel association.
Twede JV; Difazio M
Pediatr Dermatol; 2009; 26(1):97-9. PubMed ID: 19250421
[TBL] [Abstract][Full Text] [Related]
30. Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.
Vieira V; David G; Roche O; de la Houssaye G; Boutboul S; Arbogast L; Kobetz A; Orssaud C; Camand O; Schorderet DF; Munier F; Rossi A; Delezoide AL; Marsac C; Ricquier D; Dufier JL; Menasche M; Abitbol M
Mol Vis; 2006 Dec; 12():1448-60. PubMed ID: 17167399
[TBL] [Abstract][Full Text] [Related]
31. Pallister-Killian Syndrome (PKS) as a Cause of Mental Retardation.
Shamdeen A; Meyer S; Gottschling S; Oehl-Jaschkowitz B; Gortner L; Shamdeen MG
Klin Padiatr; 2009; 221(2):97-9. PubMed ID: 19067289
[TBL] [Abstract][Full Text] [Related]
32. Intrafamilial variability in Fraser syndrome.
Prasun P; Pradhan M; Goel H
Prenat Diagn; 2007 Aug; 27(8):778-82. PubMed ID: 17546704
[TBL] [Abstract][Full Text] [Related]
33. Proceedings: Pseudo-rubinstein syndrome: an autosomal dominant condition.
Lacassie Y
Birth Defects Orig Artic Ser; 1976; 12(5):330-1. PubMed ID: 953239
[No Abstract] [Full Text] [Related]
34. Severe neonatal manifestations of Costello syndrome.
Lo IF; Brewer C; Shannon N; Shorto J; Tang B; Black G; Soo MT; Ng DK; Lam ST; Kerr B
J Med Genet; 2008 Mar; 45(3):167-71. PubMed ID: 18039947
[TBL] [Abstract][Full Text] [Related]
35. HRAS and the Costello syndrome.
Rauen KA
Clin Genet; 2007 Feb; 71(2):101-8. PubMed ID: 17250658
[TBL] [Abstract][Full Text] [Related]
36. Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome.
Lyons MJ; Graham JM; Neri G; Hunter AG; Clark RD; Rogers RC; Moscarda M; Boccuto L; Simensen R; Dodd J; Robertson S; DuPont BR; Friez MJ; Schwartz CE; Stevenson RE
J Med Genet; 2009 Jan; 46(1):9-13. PubMed ID: 18805826
[TBL] [Abstract][Full Text] [Related]
37. Unertan syndrome: review and report of four new cases.
Tan U
Int J Neurosci; 2008 Feb; 118(2):211-25. PubMed ID: 18205078
[TBL] [Abstract][Full Text] [Related]
38. Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: report of two cases and review of the literature.
Yamamoto K; Yoshihashi H; Furuya N; Adachi M; Ito S; Tanaka Y; Masuno M; Chiyo H; Kurosawa K
Congenit Anom (Kyoto); 2009 Mar; 49(1):8-14. PubMed ID: 19243411
[TBL] [Abstract][Full Text] [Related]
39. Genitourinary anomalies of pediatric FG syndrome.
Smith JF; Wayment RO; Cartwright PC; Snow BW; Opitz JM
J Urol; 2007 Aug; 178(2):656-9. PubMed ID: 17574621
[TBL] [Abstract][Full Text] [Related]
40. Deletion 2q37: an identifiable clinical syndrome with mental retardation and autism.
Galasso C; Lo-Castro A; Lalli C; Nardone AM; Gullotta F; Curatolo P
J Child Neurol; 2008 Jul; 23(7):802-6. PubMed ID: 18658079
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
