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241 results
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Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma.
Genuardi M, Klutz M, Devriendt K, Caruso D, Stirpe M, Lohmann DR. Genuardi M, et al. Eur J Hum Genet. 2001 Sep;9(9):690-4. doi: 10.1038/sj.ejhg.5200694. Eur J Hum Genet. 2001. PMID: 11571558
Dosage analysis at the CSF1 and CSF1R loci in a new case of partial trisomy 5q.
Genuardi M, Flamia R, Palka G, Parruti G, Neri G. Genuardi M, et al. Clin Genet. 1992 May;41(5):259-62. doi: 10.1111/j.1399-0004.1992.tb03677.x. Clin Genet. 1992. PMID: 1606715
Brachy/ectrodactyly and absence or hypoplasia of the fibula: an autosomal dominant condition with low penetrance and variable expressivity.
Genuardi M, Zollino M, Bellussi A, Fuhrmann W, Neri G. Genuardi M, et al. Clin Genet. 1990 Nov;38(5):321-6. doi: 10.1111/j.1399-0004.1990.tb03589.x. Clin Genet. 1990. PMID: 2178076
Analysis of 138 consecutive ovarian cancer patients: incidence and characteristics of familial cases.
Greggi S, Genuardi M, Benedetti-Panici P, Cento R, Scambia G, Neri G, Mancuso S. Greggi S, et al. Among authors: genuardi m. Gynecol Oncol. 1990 Dec;39(3):300-4. doi: 10.1016/0090-8258(90)90256-k. Gynecol Oncol. 1990. PMID: 2258075
Partial duplication of chromosome 1q preceding the development of an L3 lymphoblastic leukemia with t(8;14), secondary to treatment for Hodgkin's disease.
Zollino M, Genuardi M, De Santis R, Leone G, Marra R, Mancini R, Mango G, Neri G. Zollino M, et al. Among authors: genuardi m. Eur J Haematol. 1988 Mar;40(3):193-7. doi: 10.1111/j.1600-0609.1988.tb00823.x. Eur J Haematol. 1988. PMID: 3162717
A girl with G syndrome and agenesis of the corpus callosum.
Neri G, Genuardi M, Natoli G, Costa P, Maggioni G. Neri G, et al. Among authors: genuardi m. Am J Med Genet. 1987 Oct;28(2):287-91. doi: 10.1002/ajmg.1320280204. Am J Med Genet. 1987. PMID: 3425610
Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the existence of a limb defect gene in 6q21.
Gurrieri F, Cammarata M, Avarello RM, Genuardi M, Pomponi MG, Neri G, Giuffrè L. Gurrieri F, et al. Among authors: genuardi m. Am J Med Genet. 1995 Jan 30;55(3):315-8. doi: 10.1002/ajmg.1320550314. Am J Med Genet. 1995. PMID: 7726229
Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal.
Genuardi M, Bardoni B, Floridia G, Chiurazzi P, Scarano G, Zollino M, Garcea N, Martini-Neri ME, Neri G. Genuardi M, et al. Clin Genet. 1995 Jan;47(1):38-41. doi: 10.1111/j.1399-0004.1995.tb03919.x. Clin Genet. 1995. PMID: 7774042
A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum.
Genuardi M, Calvieri F, Tozzi C, Coslovi R, Neri G. Genuardi M, et al. Clin Dysmorphol. 1994 Oct;3(4):292-6. Clin Dysmorphol. 1994. PMID: 7894733 Review.
Polymorphisms of the prion protein gene in Italian patients with Creutzfeldt-Jakob disease.
Salvatore M, Genuardi M, Petraroli R, Masullo C, D'Alessandro M, Pocchiari M. Salvatore M, et al. Among authors: genuardi m. Hum Genet. 1994 Oct;94(4):375-9. doi: 10.1007/BF00201596. Hum Genet. 1994. PMID: 7927332
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