Search Results - "GRIFA, A" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

by Gasparini, Paolo, Grifa, Anna, Wagner, Carsten A, D'Ambrosio, Lucrezia, Melchionda, Salvatore, Bernardi, Francesco, Lopez-Bigas, Nuria, Rabionet, Raquel, Arbones, Mariona, Monica, Matteo Della, Estivill, Xavier, Zelante, Leopoldo, Lang, Florian
Published in Nature genetics (01.09.1999)

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Mutation analysis of the HLA-H gene in Italian hemochromatosis patients

Mutation analysis of the HLA-H gene in Italian hemochromatosis patients

by CARELLA, M, D'AMBROSIO, L, CAMASCHELLA, C, TOTARO, A, GRIFA, A, VALENTINO, M. A, PIPERNO, A, GIRELLI, D, ROETTO, A, FRANCO, B, GASPARINI, P
Published in American journal of human genetics (01.04.1997)

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Juvenile and Adult Hemochromatosis Are Distinct Genetic Disorders

Juvenile and Adult Hemochromatosis Are Distinct Genetic Disorders

by Camaschella, C., Roetto, A., Cicilano, M., Pasquero, P., Bosio, S., Gubetta, L., Di Vito, F., Girelli, D., Tataro, A., Carella, M., Grifa, A., Gasparini, P.
Published in European journal of human genetics : EJHG (01.11.1997)

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Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment

Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment

by López-Bigas, N., Melchionda, S., de Cid, R., Grifa, A., Zelante, L., Govea, N., Arbonés, M.L., Gasparini, P., Estivill, X.
Published in Human mutation (01.12.2001)

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Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment

Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment

by López-Bigas, N., Melchionda, S., de Cid, R., Grifa, A., Zelante, L., Govea, N., Arbonés, M.L., Gasparini, P., Estivill, X.
Published in Human mutation (01.07.2002)

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Development of RNA-SSCP protocols for the identification and screening of CFTR mutations: identification of two new mutations

Development of RNA-SSCP protocols for the identification and screening of CFTR mutations: identification of two new mutations

by Bisceglia, L, Grifa, A, Zelante, L, Gasparini, P
Published in Human mutation (1994)

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Hereditary Hemochromatosis: Generation of a Transcription Map within a Refined and Extended Map of the HLA Class I Region

Hereditary Hemochromatosis: Generation of a Transcription Map within a Refined and Extended Map of the HLA Class I Region

by Totaro, Angela, Rommens, Johanna M., Grifa, Anna, Lunardi, Claudio, Carella, Massimo, Huizenga, Jack J., Roetto, Antonella, Camaschella, Clara, De Sandre, Giorgio, Gasparini, Paolo
Published in Genomics (San Diego, Calif.) (01.02.1996)

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Detection of a neurofibromatosis type I (NF1) homologous sequence by PCR: implications for the diagnosis and screening of genetic diseases

Detection of a neurofibromatosis type I (NF1) homologous sequence by PCR: implications for the diagnosis and screening of genetic diseases

by Gasparini, P., Grifa, A., Origone, P., Coviello, D., Antonacci, R., Rocchi, M.
Published in Molecular and cellular probes (01.10.1993)

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Two polymorphic repeats in the candidate region for the haemochromatosis gene

Two polymorphic repeats in the candidate region for the haemochromatosis gene

by Grifa, A., Totaro, A., Carella, M., D»Ambrosio, L., Sbaiz, L., Roetto, A., Camaschella, C., Gasparini, P.
Published in Molecular and cellular probes (01.12.1996)

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Molecular screening of genetic defects with RNA–SSCP analysis: the PKU and cystinuria model

Molecular screening of genetic defects with RNA–SSCP analysis: the PKU and cystinuria model

by Giannattasio, S., Bisceglia, L., Lattanzio, P., Grifa, A., Dianzani, I., Gasparini, P., Marra, E.
Published in Molecular and cellular probes (01.06.1995)

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Interstitial “de novo” tandem duplication of 7(q31.1-q35): first reported case

Interstitial “de novo” tandem duplication of 7(q31.1-q35): first reported case

by Zelante, L., Croce, A.I., Grifa, A., Notarangelo, A., Calvano, S.
Published in Annales de génétique (2003)

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A recombination event close to HFE gene in hereditary hemochromatosis

A recombination event close to HFE gene in hereditary hemochromatosis

by Roetto, A, Sbaiz, L, Bosio, S, Piperno, A, Fargion, S, Carella, M, Totaro, A, Grifa, A, Gasparini, P, Camaschella, C
Published in Annales de génétique (1997)

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Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment: MUTATIONS IN BRIEF

Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment: MUTATIONS IN BRIEF

by López-Bigas, N., Melchionda, S., de Cid, R., Grifa, A., Zelante, L., Govea, N., Arbonés, M.L., Gasparini, P., Estivill, X.
Published in Human mutation (01.07.2002)

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Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment: Mutations in Brief

Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment: Mutations in Brief

by López-Bigas, N., Melchionda, S., de Cid, R., Grifa, A., Zelante, L., Govea, N., Arbonés, M.L., Gasparini, P., Estivill, X.
Published in Human mutation (01.12.2001)

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Immotile cilia syndrome: a recombinant family at HLA-linked gene locus

Immotile cilia syndrome: a recombinant family at HLA-linked gene locus

by Gasparini, P, Grifa, A, Oggiano, N, Fabbrizzi, E, Giorgi, P L
Published in American journal of medical genetics (15.02.1994)

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GABA ( gamma -amino-butyric acid) neurotransmission: identification and fine mapping of the human GABA receptor gene

GABA ( gamma -amino-butyric acid) neurotransmission: identification and fine mapping of the human GABA receptor gene

by Grifa, A, Totaro, A, Rommens, J M, Carella, M, Roetto, A, Borgato, L, Zelante, L, Gasparini, P
Published in Biochemical and biophysical research communications (18.09.1998)

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GABA (gamma-amino-butyric acid) neurotransmission: identification and fine mapping of the human GABAB receptor gene

GABA (gamma-amino-butyric acid) neurotransmission: identification and fine mapping of the human GABAB receptor gene

by Grifa, A, Totaro, A, Rommens, J M, Carella, M, Roetto, A, Borgato, L, Zelante, L, Gasparini, P
Published in Biochemical and biophysical research communications (18.09.1998)

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Cloning of a New Gene (FB19) within HLA Class I Region

Cloning of a New Gene (FB19) within HLA Class I Region

by Totaro, Angela, Grifa, Anna, Carella, Massimo, Rommens, Johanna M., Valentino, Maria A., Roetto, Antonella, Zelante, Leopoldo, Gasparini, Paolo
Published in Biochemical and biophysical research communications (29.09.1998)

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The motilin gene: subregional localisation, tissue expression, DNA polymorphisms and exclusion as a candidate gene for the HLA-associated immotile cilia syndrome

The motilin gene: subregional localisation, tissue expression, DNA polymorphisms and exclusion as a candidate gene for the HLA-associated immotile cilia syndrome

by Gasparini, P, Grifa, A, Savasta, S, Merlo, I, Bisceglia, L, Totaro, A, Zelante, L
Published in Human genetics (01.12.1994)

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New polymorphisms and markers in the HLA class I region: relevance to hereditary hemochromatosis (HFE)

New polymorphisms and markers in the HLA class I region: relevance to hereditary hemochromatosis (HFE)

by Totaro, A, Grifa, A, Roetto, A, Lunardi, C, D'Agruma, L, Sbaiz, L, Zelante, L, De Sandre, G, Camaschella, C, Gasparini, P
Published in Human genetics (01.04.1995)

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