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Phenotype variabilities of laminopathies.

• Authors : Siciliano, Gabriele; Vadi, Gabriele; Torri, Francesca

Subjects: FACIOSCAPULOHUMERAL muscular dystrophy; LIMB-girdle muscular dystrophy; PHENOTYPIC plasticityITALY

• Source: European Journal of Translational Myology; 2023, Vol. 33 Issue 2, p37-39, 3p

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A point mutation in the splice donor site of intron 7 in the alphas2-casein encoding gene of the Mediterranean River buffalo results in an allele-specific exon skipping.

• Authors : Cosenza G; Dipartimento di Scienze del Suolo, della Pianta, dell'Ambiente e delle Produzioni Animali, Università degli Studi di Napoli Federico II, Portici, Italy.; Pauciullo A

Subjects: Alternative Splicing/Alternative Splicing/Alternative Splicing/*genetics ; Buffaloes/Buffaloes/Buffaloes/*genetics ; Caseins/Caseins/Caseins/*genetics

• Source: Animal genetics [Anim Genet] 2009 Oct; Vol. 40 (5), pp. 791. Date of Electronic Publication: 2009 Apr 24.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 8605704 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype.

• Authors : Cappelli A; U.O. Laboratorio Analisi Cliniche e Microbiologiche, Settore di Medicina Molecolare ASUR ZT13, Ascoli Piceno, Italy. ; Tumini S

Subjects: Alternative Splicing* ; Frameshift Mutation* ; Mutagenesis, Insertional*

• Source: Diabetes research and clinical practice [Diabetes Res Clin Pract] 2009 Mar; Vol. 83 (3), pp. e72-4. Date of Electronic Publication: 2009 Jan 15.Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 8508335 Publication Model: Print-Electronic Cited Medium: Internet

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Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia.

• Authors : Patrono C; IRCCS-Children's Hospital Bambino Gesù, Rome, Italy.; Casali C

Subjects: Adenosine Triphosphatases/Adenosine Triphosphatases/Adenosine Triphosphatases/*genetics ; Alternative Splicing/Alternative Splicing/Alternative Splicing/*genetics ; Mutation, Missense/Mutation, Missense/Mutation, Missense/*genetics

• Source: Journal of neurology [J Neurol] 2002 Feb; Vol. 249 (2), pp. 200-5.Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print Cited Medium: Print ISSN: 0340-5354 (Print)

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A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy.

• Authors : Ferlini A; Department of Paediatrics & Neonatal Medicine, Imperial College School of Medicine, London W12 ONN, United Kingdom. ; Galié N

Subjects: Alternative Splicing* ; Alu Elements* ; Gene Rearrangement*

• Source: American journal of human genetics [Am J Hum Genet] 1998 Aug; Vol. 63 (2), pp. 436-46.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Print ISSN: 0002-9297 (Print)

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Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.

• Authors : Férec C; Centre de Biogénétique, Centre Départemental de Transfusion Sanguine, Brest, France.; Novelli G

Subjects: Alternative Splicing* ; Point Mutation*; Cystic Fibrosis/Cystic Fibrosis/Cystic Fibrosis/*genetics

• Source: Molecular and cellular probes [Mol Cell Probes] 1995 Apr; Vol. 9 (2), pp. 135-7.Publisher: Academic Press Country of Publication: England NLM ID: 8709751 Publication Model: Print Cited Medium: Print ISSN: 0890-8508 (Print)

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Homozygosity for a novel splice site mutation (2790-2 A--->G) preceding exon 15 of the CFTR gene in a cystic fibrosis patient of North-East Italian descent.

• Authors : Marigo C; Istituto di Biologia e Genetica, Universitá di Verona Italy.; Bombieri C

Subjects: Alternative Splicing* ; Homozygote*; Cystic Fibrosis/Cystic Fibrosis/Cystic Fibrosis/*genetics

• Source: Molecular and cellular probes [Mol Cell Probes] 1995 Apr; Vol. 9 (2), pp. 139-41.Publisher: Academic Press Country of Publication: England NLM ID: 8709751 Publication Model: Print Cited Medium: Print ISSN: 0890-8508 (Print)

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Alternative splicing of mutant LDL-receptor mRNA in an Italian patient with familial hypercholesterolemia due to a partial deletion of LDL-receptor gene (FHPotenza).

• Authors : Lelli N; Istituto di Patologia Generale, Università di Modena, Italy.; Garuti R

Subjects: Alternative Splicing* ; Gene Deletion*; Hyperlipoproteinemia Type II/Hyperlipoproteinemia Type II/Hyperlipoproteinemia Type II/*genetics

• Source: Journal of lipid research [J Lipid Res] 1993 Aug; Vol. 34 (8), pp. 1347-54.Publisher: Elsevier Country of Publication: United States NLM ID: 0376606 Publication Model: Print Cited Medium: Print ISSN: 0022-2275 (Print)

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The compass-like locus, exclusive to the ambulacrarians, encodes a chromatin insulator binding protein in the sea urchin embryo.

• Authors : Cavalieri, Vincenzo; Melfi, Raffaella; Spinelli, Giovanni

• Source: PLoS Genetics. September 1, 2013, Vol. 9 Issue 9.

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