These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
110 related articles for article (PubMed ID: 1227534)
21. Letter: Mulibrey nanism v. hereditary congenital dwarfism with pericardial constriction. Perheentupa J; Autio S; Leisti S; Tuuteri L; Raitta C Lancet; 1973 Nov; 2(7837):1095. PubMed ID: 4127361 [No Abstract] [Full Text] [Related]
22. Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis. Avela K; Lipsanen-Nyman M; Perheentupa J; Wallgren-Pettersson C; Marchand S; Fauré S; Sistonen P; de la Chapelle A; Lehesjoki AE Am J Hum Genet; 1997 Apr; 60(4):896-902. PubMed ID: 9106536 [TBL] [Abstract][Full Text] [Related]
23. High frequency of tumours in Mulibrey nanism. Karlberg N; Karlberg S; Karikoski R; Mikkola S; Lipsanen-Nyman M; Jalanko H J Pathol; 2009 Jun; 218(2):163-71. PubMed ID: 19334051 [TBL] [Abstract][Full Text] [Related]
24. [Microencephalic nanism, severe retardation, hypertonia, obesity, and hypogonadism in two brothers: a new syndrome?]. Delozier-Blanchet CD; Haenggeli CA; Engel E J Genet Hum; 1989 Dec; 37(4-5):353-65. PubMed ID: 2635712 [TBL] [Abstract][Full Text] [Related]
25. An autosomal recessive mental retardation syndrome with hepatic fibrosis and renal cysts. Thompson E; Baraitser M Am J Med Genet; 1986 May; 24(1):151-8. PubMed ID: 3085498 [TBL] [Abstract][Full Text] [Related]
26. Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting. Kotzot D Ann Genet; 2004; 47(3):251-60. PubMed ID: 15337470 [TBL] [Abstract][Full Text] [Related]
27. The Dubowitz syndrome: the psychological status of ten cases at follow-up. Parrish JM; Wilroy RS Am J Med Genet; 1980; 6(1):3-8. PubMed ID: 7190357 [TBL] [Abstract][Full Text] [Related]
28. New autosomal-recessive syndrome of Leber congenital amaurosis, short stature, growth hormone insufficiency, mental retardation, hepatic dysfunction, and metabolic acidosis. Ehara H; Nakano C; Ohno K; Goto YI; Takeshita K Am J Med Genet; 1997 Aug; 71(3):258-66. PubMed ID: 9268092 [TBL] [Abstract][Full Text] [Related]
29. New intragenic rearrangements in non-Finnish mulibrey nanism. Jobic F; Morin G; Vincent-Delorme C; Cadet E; Cabry R; Mathieu-Dramard M; Copin H; Rochette J; Jedraszak G Am J Med Genet A; 2017 Oct; 173(10):2782-2788. PubMed ID: 28815877 [TBL] [Abstract][Full Text] [Related]
30. An apparently new syndrome of microcephalic primordial dwarfism and cataracts. Toriello HV; Horton WA; Oostendorp A; Waterman DF; Higgins JV Am J Med Genet; 1986 Sep; 25(1):1-8. PubMed ID: 3799711 [TBL] [Abstract][Full Text] [Related]
31. Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant. Franceschini P; Testa A; Bogetti G; Girardo E; Guala A; Lopez-Bell G; Buzio G; Ferrario E; Piccato E Am J Med Genet; 1992 Jan; 42(1):112-6. PubMed ID: 1308349 [TBL] [Abstract][Full Text] [Related]
32. Diagnostic survey at Yamanashi School for Blind: importance of heredity. Tsukahara S; Sasamoto M; Watanabe I; Phillips CI Jpn J Ophthalmol; 1985; 29(3):315-21. PubMed ID: 4079129 [TBL] [Abstract][Full Text] [Related]
33. Autosomal recessive spondylo-epi-metaphyseal dysplasia (Irapa type) in a Mexican family: delineation of the syndrome. Hernández A; Ramírez ML; Nazará Z; Ocampo R; Ibarra B; Cantú JM Am J Med Genet; 1980; 5(2):179-88. PubMed ID: 6772027 [TBL] [Abstract][Full Text] [Related]
35. Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome. Majewski F; Goecke T Am J Med Genet; 1982 May; 12(1):7-21. PubMed ID: 7046443 [No Abstract] [Full Text] [Related]
36. Cockayne syndrome with early onset of manifestations. Moyer DB; Marquis P; Shertzer ME; Burton BK Am J Med Genet; 1982 Oct; 13(2):225-30. PubMed ID: 7137233 [TBL] [Abstract][Full Text] [Related]
37. The Peters'-Plus syndrome: description of 16 patients and review of the literature. Hennekam RC; Van Schooneveld MJ; Ardinger HH; Van Den Boogaard MJ; Friedburg D; Rudnik-Schoneborn S; Seguin JH; Weatherstone KB; Wittebol-Post D; Meinecke P Clin Dysmorphol; 1993 Oct; 2(4):283-300. PubMed ID: 7508316 [TBL] [Abstract][Full Text] [Related]
38. [Cockayne syndrome in Lebanon. Description of 3 cases and review of the literature]. Jabre P; Mezzina M; Megarbane A J Med Liban; 1999; 47(2):144-7. PubMed ID: 10410472 [TBL] [Abstract][Full Text] [Related]
39. Brief clinical report: corneal dermoids and short stature in brother and sister--a new syndrome? Guízar-Vázquez J; Luengas-Muñoz FJ; Antillón F Am J Med Genet; 1981; 8(2):229-34. PubMed ID: 7282777 [TBL] [Abstract][Full Text] [Related]
40. A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy. Doğancı T; Yüksel Konuk BE; Alpan N; Konuk O; Hämäläinen RH; Lehesjoki AE; Tekin M Clin Dysmorphol; 2007 Jul; 16(3):173-176. PubMed ID: 17551331 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]