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2. The expanding clinical and genetic spectrum of the myotonic dystrophies. Ricker K Acta Neurol Belg; 2000 Sep; 100(3):151-5. PubMed ID: 11098287 [TBL] [Abstract][Full Text] [Related]
3. Central hypogonadism in Klinefelter syndrome: report of two cases and review of the literature. Cangiano B; Indirli R; Profka E; Castellano E; Goggi G; Vezzoli V; Mantovani G; Arosio M; Persani L; Borretta G; Ferrante E; Bonomi M J Endocrinol Invest; 2021 Mar; 44(3):459-470. PubMed ID: 32537678 [TBL] [Abstract][Full Text] [Related]
4. Lethal congenital muscular dystrophy with cataracts and a minor brain anomaly: new entity or variant of Walker-Warburg syndrome? Wargowski DS; Chitayat D; Tyson RW; Norman MG; Friedman JM Am J Med Genet; 1991 Apr; 39(1):19-24. PubMed ID: 1867258 [TBL] [Abstract][Full Text] [Related]
5. Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency. Romero NB; Tomé FM; Leturcq F; el Kerch FE; Azibi K; Bachner L; Anderson RD; Roberds SL; Campbell KP; Fardeau M C R Acad Sci III; 1994 Jan; 317(1):70-6. PubMed ID: 7987694 [TBL] [Abstract][Full Text] [Related]
10. Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes? Udd B; Krahe R; Wallgren-Pettersson C; Falck B; Kalimo H Neuromuscul Disord; 1997 Jun; 7(4):217-28. PubMed ID: 9196902 [TBL] [Abstract][Full Text] [Related]
11. [Limb-girdle muscular dystrophy: clinical, hereditary and histological features: study of a family (author's transl)]. Pennisi G; Russo S; Ammatuna A; Falsaperla A Riv Patol Nerv Ment; 1982; 102(3):97-106. PubMed ID: 6213998 [TBL] [Abstract][Full Text] [Related]
12. Emery-Dreifuss syndrome: genetic and clinical varieties. Rudenskaya GE; Ginter EK; Petrin AN; Djomina NA Am J Med Genet; 1994 Apr; 50(3):228-33. PubMed ID: 8042665 [TBL] [Abstract][Full Text] [Related]
13. [2 unusual cases of myotonic dystrophy, the first presenting as Thomsen's disease, the second with pharyngoesophageal motility disorders leading to broncho-pulmonary complications]. Mendez H; Klein D J Genet Hum; 1975 Mar; 23(1):29-42. PubMed ID: 1165478 [TBL] [Abstract][Full Text] [Related]
14. [Gamma-sarcoglycanopathy: clinico-pathological and genetic study of 11 cases]. García-García D; Teijeira-Bautista S; Fernández-Rodríguez JM; Flores-Calvete J; Sánchez-Espíldora P; Fernández-Couto D; Cimas-Hernando I; Teijeiro-Ferreira A; Fernández-Hojas R; Brasa-Fernández Fierros J; Martínez de Alegría A; Escribano-Arias JL; Núñez-Delgado M; Navarro-Fernández Balbuena C Rev Neurol; 1998 Jun; 26(154):905-11. PubMed ID: 9658457 [TBL] [Abstract][Full Text] [Related]
15. Hypogonadism is common in men with myopathies. Al-Harbi TM; Bainbridge LJ; McQueen MJ; Tarnopolsky MA J Clin Neuromuscul Dis; 2008 Jun; 9(4):397-401. PubMed ID: 18525423 [TBL] [Abstract][Full Text] [Related]
16. [Steinert's disease and pregnancy. A case report and recent literature]. Delest A; Elhage A; Cosson M; Leclercq G; Gremillet C; Pasquier F; Manouvrier-Hanu S; Decocq J; Delahousse G J Gynecol Obstet Biol Reprod (Paris); 1995; 24(2):177-80. PubMed ID: 7782590 [TBL] [Abstract][Full Text] [Related]
17. [Klinefelter syndrome with hypogonadotropic hypogonadism and absence of Leydig cells]. Rodríguez de Ledesma JM; Cozar Olmo JM; Nistal Martín N; Cisneros J; Cuervo E; Martínez-Piñeiro JA Arch Esp Urol; 1994; 47(6):618-20. PubMed ID: 7944607 [TBL] [Abstract][Full Text] [Related]
18. Cerebro-oculo-muscular syndrome: a variant of Fukuyama congenital cerebromuscular dystrophy. Dambska M; Wisniewski K; Sher J; Solish G Clin Neuropathol; 1982; 1(3):93-8. PubMed ID: 6820333 [TBL] [Abstract][Full Text] [Related]
19. [Tibial muscular dystrophy. A rare form of distal myopathy]. de Seze J; Udd B; Vermersch P Rev Neurol (Paris); 1999 Apr; 155(4):296-305. PubMed ID: 10367327 [TBL] [Abstract][Full Text] [Related]
20. [Adhalin gene mutations in malignant limb-girdle muscular dystrophy and clinical features in adhalin-deficient muscular dystrophy]. Endo T; Akaike M; Kawai H; Matsumura K; Saito S Rinsho Shinkeigaku; 1996 Mar; 36(3):415-22. PubMed ID: 8741343 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]