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

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.

  • Authors : Louie CM; Howard Hughes Medical Institute, Department of Pediatrics, University of California, San Diego, La Jolla, USA.; Caridi G

Subjects: Photoreceptor Cells, Vertebrate/Photoreceptor Cells, Vertebrate/Photoreceptor Cells, Vertebrate/*pathology ; Proto-Oncogene Proteins/Proto-Oncogene Proteins/Proto-Oncogene Proteins/*metabolism ; Retinal Degeneration/Retinal Degeneration/Retinal Degeneration/*pathology

  • Source: Nature genetics [Nat Genet] 2010 Feb; Vol. 42 (2), pp. 175-80. Date of Electronic Publication: 2010 Jan 17.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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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

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

Genetic testing in Italy, year 2004.

Subjects: Genetic Predisposition to Disease*; Genetic Testing/Genetic Testing/Genetic Testing/*statistics & numerical data ; Prenatal Diagnosis/Prenatal Diagnosis/Prenatal Diagnosis/*statistics & numerical data

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2006 Aug; Vol. 14 (8), pp. 911-6. Date of Electronic Publication: 2006 May 24.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Print ISSN:

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Academic Journal

Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family.

  • Authors : Novelli A; IRCCS CSS, San Giovanni Rotondo and CSS Mendel, Rome, Italy.; Valente EM

Subjects: Genetic Linkage*; Chromosomes, Human, Pair 2/Chromosomes, Human, Pair 2/Chromosomes, Human, Pair 2/*genetics ; Chromosomes, Human, Pair 7/Chromosomes, Human, Pair 7/Chromosomes, Human, Pair 7/*genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2004 Jul; Vol. 12 (7), pp. 579-83.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Print ISSN: 1018-4813

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Academic Journal

Protein carbonyl group content in patients affected by familiar chronic nail candidiasis.

  • Authors : Gangemi S; Division and School of Allergy and Clinical Immunology, Department of Human Pathology, University of Messina, Italy. ; Saija A

Subjects: Oxidative Stress*; Blood Proteins/Blood Proteins/Blood Proteins/*chemistry ; Candidiasis, Chronic Mucocutaneous/Candidiasis, Chronic Mucocutaneous/Candidiasis, Chronic Mucocutaneous/*blood

  • Source: Mediators of inflammation [Mediators Inflamm] 2003 Aug; Vol. 12 (4), pp. 247-9.Publisher: Hindawi Pub. Corp Country of Publication: United States NLM ID: 9209001 Publication Model: Print Cited Medium: Print ISSN: 0962-9351

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Academic Journal

A gene for familial isolated chronic nail candidiasis maps to chromosome 11p12-q12.1.

Subjects: Chromosome Mapping*; Candidiasis, Chronic Mucocutaneous/Candidiasis, Chronic Mucocutaneous/Candidiasis, Chronic Mucocutaneous/*genetics ; Chromosomes, Human, Pair 11/Chromosomes, Human, Pair 11/Chromosomes, Human, Pair 11/*genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2003 Jun; Vol. 11 (6), pp. 433-6.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Print ISSN: 1018-4813

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Academic Journal

DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene.

  • Authors : Conti E; CSS Hospital, IRCCS, San Giovanni Rotondo, Italy. ; Grifone N

Subjects: Chromosomes, Human, Pair 22/Chromosomes, Human, Pair 22/Chromosomes, Human, Pair 22/*genetics ; Heart Defects, Congenital/Heart Defects, Congenital/Heart Defects, Congenital/*genetics ; T-Box Domain Proteins/T-Box Domain Proteins/T-Box Domain Proteins/*genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2003 Apr; Vol. 11 (4), pp. 349-51.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Print ISSN: 1018-4813

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Academic Journal

Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients.

  • Authors : Margiotti K; Dipartimento di Biopatologia e Diagnostica Per Immagini, Sezione di Genetica, Università 'Tor Vergata', Via di Tor Vergata 135, 00133 Rome, Italy.; Sangiuolo F

Subjects: 3-Oxo-5-alpha-Steroid 4-Dehydrogenase/3-Oxo-5-alpha-Steroid 4-Dehydrogenase/3-Oxo-5-alpha-Steroid 4-Dehydrogenase/*genetics ; Adenocarcinoma/Adenocarcinoma/Adenocarcinoma/*genetics ; Prostatic Neoplasms/Prostatic Neoplasms/Prostatic Neoplasms/*genetics

  • Source: Disease markers [Dis Markers] 2000; Vol. 16 (3-4), pp. 147-50.Publisher: Hindawi Pub. Corp Country of Publication: United States NLM ID: 8604127 Publication Model: Print Cited Medium: Print ISSN: 0278-0240

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