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Academic Journal

Infantile cortical hyperostosis and COL1A1 mutation in four generations.

  • Authors : Cerruti-Mainardi P; Paediatrics Department and Genetics Unit, S. Andrea Hospital, Corso M Abbiate, 21-13100 Vercelli, Italy. ; Venturi G

Subjects: Mutation*; Collagen Type I/Collagen Type I/Collagen Type I/*genetics ; Osteitis Deformans/Osteitis Deformans/Osteitis Deformans/*geneticsHyperostosis corticalis deformans juvenilis

  • Source: European journal of pediatrics [Eur J Pediatr] 2011 Nov; Vol. 170 (11), pp. 1385-90. Date of Electronic Publication: 2011 May 13.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Mutation screening of the DYT6/THAP1 gene in Italy.

  • Authors : Bonetti M; IRCCS Casa Sollievo della Sofferenza, CSS-Mendel Institute, Rome, Italy.; Barzaghi C

Subjects: Apoptosis Regulatory Proteins/Apoptosis Regulatory Proteins/Apoptosis Regulatory Proteins/*genetics ; DNA-Binding Proteins/DNA-Binding Proteins/DNA-Binding Proteins/*genetics ; Dystonia Musculorum Deformans/Dystonia Musculorum Deformans/Dystonia Musculorum Deformans/*genetics

  • Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2009 Dec 15; Vol. 24 (16), pp. 2424-7.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print Cited Medium: Internet ISSN: 1531-8257

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Academic Journal

Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.

  • Authors : Chessa L; II School of Medicine, University La Sapienza, I-00189 Roma, Italy. ; Piane M

Subjects: Founder Effect* ; Mutation*; Ataxia Telangiectasia/Ataxia Telangiectasia/Ataxia Telangiectasia/*genetics

  • Source: Annals of human genetics [Ann Hum Genet] 2009 Sep; Vol. 73 (Pt 5), pp. 532-9.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print Cited Medium: Internet ISSN: 1469-1809

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Academic Journal

A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients.

  • Authors : Signori E; Laboratory of Molecular Medicine and Biotechnology, University Campus Bio-Medico School of Medicine and Institute of Neurobiology and Molecular Medicine, CNR, Rome, Italy. ; Massi E

Subjects: Mutation*; Bone Neoplasms/Bone Neoplasms/Bone Neoplasms/*genetics ; N-Acetylglucosaminyltransferases/N-Acetylglucosaminyltransferases/N-Acetylglucosaminyltransferases/*genetics

  • Source: Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2007 May; Vol. 46 (5), pp. 470-7.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9007329 Publication Model: Print Cited Medium: Print ISSN: 1045-2257 (Print)

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Academic Journal

Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

  • Authors : Katzaki E; Medical Genetics, Department of Molecular Biology, University of Siena, V. Le Bracci 2, 53100, Siena, Italy.; Pescucci C

Subjects: Mutation*; Abnormalities, Multiple/Abnormalities, Multiple/Abnormalities, Multiple/*genetics ; Developmental Disabilities/Developmental Disabilities/Developmental Disabilities/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2007; Vol. 52 (12), pp. 1011-1017. Date of Electronic Publication: 2007 Nov 08.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Print ISSN:

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Academic Journal

Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease.

Subjects: Mutation*; Parkinson Disease/Parkinson Disease/Parkinson Disease/*genetics ; Protein Serine-Threonine Kinases/Protein Serine-Threonine Kinases/Protein Serine-Threonine Kinases/*genetics

  • Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2006 Aug; Vol. 21 (8), pp. 1232-5.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print Cited Medium: Print ISSN: 0885-3185 (Print)

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Academic Journal

LGI1 gene mutation screening in sporadic partial epilepsy with auditory features.

  • Authors : Flex E; Dipartimento di Medicina Sperimentale e Patologia, Universita' di Roma La Sapienza, Rome, Italy.; Pizzuti A

Subjects: Epilepsy, Partial, Sensory/Epilepsy, Partial, Sensory/Epilepsy, Partial, Sensory/*genetics ; Epilepsy, Temporal Lobe/Epilepsy, Temporal Lobe/Epilepsy, Temporal Lobe/*genetics ; Genetic Predisposition to Disease/Genetic Predisposition to Disease/Genetic Predisposition to Disease/*genetics

  • Source: Journal of neurology [J Neurol] 2005 Jan; Vol. 252 (1), pp. 62-6.Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print Cited Medium: Print ISSN: 0340-5354 (Print)

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Academic Journal

Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles.

  • Authors : Savino M; Servizio di Genetica Medica, IRCCS-Ospedale CSS, San Giovanni Rotondo, Italy. ; d'Apolito M

Subjects: Alleles*; Basal Cell Nevus Syndrome/Basal Cell Nevus Syndrome/Basal Cell Nevus Syndrome/*genetics ; Mutation/Mutation/Mutation/*genetics

  • Source: Human mutation [Hum Mutat] 2004 Nov; Vol. 24 (5), pp. 441.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004

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Academic Journal

Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.

  • Authors : De Luca A; IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy. ; Schirinzi A

Subjects: Mutation*; Neurofibromatosis 1/Neurofibromatosis 1/Neurofibromatosis 1/*genetics ; Neurofibromin 1/Neurofibromin 1/Neurofibromin 1/*genetics

  • Source: Human mutation [Hum Mutat] 2004 Jun; Vol. 23 (6), pp. 629.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004

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Academic Journal

Linkage of ulcerative colitis to the pericentromeric region of chromosome 16 in Italian inflammatory bowel disease families is independent of the presence of common CARD15 mutations.

Subjects: Intracellular Signaling Peptides and Proteins*; Carrier Proteins/Carrier Proteins/Carrier Proteins/*genetics ; Centromere/Centromere/Centromere/*genetics

  • Source: Journal of medical genetics [J Med Genet] 2003 Nov; Vol. 40 (11), pp. 837-41.Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print Cited Medium: Internet ISSN:

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  • 1-10 of  15 results for ""Dallapiccola, B.""