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Sandro Banfi

Research Profile

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Mouse

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Retina

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Ohad Shaham; Noam Shomron; Qing Xie; Raffaella Avellino; Sandro Banfi; Rachel E Bell; Ivan Conte; Ales Cvekl; Noa Davis; Dina Grinberg; Karen Gueta; Maya Keydar-Prizant; Carmit Levy; Eyal Mor; Pazit Oren-Giladi; Metsada Pasmanik-Chor; Shaul Raviv; Ruth Ashery-Padan
Pax6 regulates gene expression in the vertebrate lens through miR-204.
Raffaella Avellino; Sandro Banfi; Sabrina Carrella; Paola Franco; Marinella Pirozzi; Maurizio Risolino; Francesco Giuseppe Salierno; Patrizia Stoppelli; Pasquale Verde; Ivan Conte
miR-204 Targeting of Ankrd13A Controls Both Mesenchymal Neural Crest and Lens Cell Migration.
Ivana Peluso; Mariateresa Pizzo; Francesca Simonelli; Francesco Testa; Carmela Ziviello; Anna Maria Barbarulo; Sara Barbato; Rob W J Collin; Ivan Conte; Gopuraja Dharmalingam; Mariarosa A B Melone; Nicola Meola; Margherita Mutarelli; Vincenzo Nigro; Sandro Banfi
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy.

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All Publications

2013: Ohad Shaham; Noam Shomron; Qing Xie; Raffaella Avellino; Sandro Banfi; Rachel E Bell; Ivan Conte; Ales Cvekl; Noa Davis; Dina Grinberg; Karen Gueta; Maya Keydar-Prizant; Carmit Levy; Eyal Mor; Pazit Oren-Giladi; Metsada Pasmanik-Chor; Shaul Raviv; Ruth Ashery-Padan
Pax6 regulates gene expression in the vertebrate lens through miR-204.
PLoS genetics 2013;9(3):e1003357.
2013: Raffaella Avellino; Sandro Banfi; Sabrina Carrella; Paola Franco; Marinella Pirozzi; Maurizio Risolino; Francesco Giuseppe Salierno; Patrizia Stoppelli; Pasquale Verde; Ivan Conte
miR-204 Targeting of Ankrd13A Controls Both Mesenchymal Neural Crest and Lens Cell Migration.
PloS one 2013;8(4):e61099.
2013: Ivana Peluso; Mariateresa Pizzo; Francesca Simonelli; Francesco Testa; Carmela Ziviello; Anna Maria Barbarulo; Sara Barbato; Rob W J Collin; Ivan Conte; Gopuraja Dharmalingam; Mariarosa A B Melone; Nicola Meola; Margherita Mutarelli; Vincenzo Nigro; Sandro Banfi
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy.
Orphanet journal of rare diseases 2013;8():16.
2013: Rossella De Cegli; Sandro Banfi; Luisa Cutillo; Gemma Flore; Gennaro Gambardella; Simona Iacobacci; Elizabeth Illingworth; Joachim Klose; mario Lauria; Lei Mao; Diego di Bernardo
Reverse engineering a mouse embryonic stem cell-specific transcriptional network reveals a new modulator of neuronal differentiation.
Nucleic acids research 2013;41(2):711-26.
2012: Alejandro Estrada-Cuzcano; Christian P Hamel; Carel B Hoyng; Ulrich Kellner; Almudena Avila-Fernandez; Carmen Ayuso; Sandro Banfi; Eyal Banin; Alexandre Bazinet; Rob W J Collin; Frans P M Cremers; Elfride B W De Baere; Thomy de Ravel; Anneke I den Hollander; Robert K Koenekoop; Susanne Kohl; Bart P Leroy; Karin W Littink; Irma Lopez; Liliana Mizrahi-Meissonnier; Audrey Senechal; Dror Sharon; Sabrina Signorini; Ieva Sliesoraityte; Enzo M Vingolo; Bernd Wissinger; Carmela Ziviello; Eberhard Zrenner; B Jeroen Klevering
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.
Archives of ophthalmology 2012;130(11):1425-32.
2012: Vincenzo Gennarino; Margherita Mutarelli; Giorgio Russolillo; Remo Sanges; Marco Sardiello; Pasquale Verde; Vincenzo Belcastro; Giovanni D'Angelo; Gopuraja Dharmalingam; Serena Fernandez; Andrea Ballabio; Sandro Banfi
Identification of microRNA-regulated gene networks by expression analysis of target genes.
Genome research 2012;22(6):1163-72.
2012: Danilo Licastro; Margherita Mutarelli; Kornelia Neveling; Emmanouil Athanasakis; Sandro Banfi; Francesca D'Amico; Angela D'Eustacchio; Antonella Fabretto; Paolo Gasparini; Ivana Peluso; Mariateresa Pizzo; Rossella Rispoli; Hans Scheffer; Francesca Simonelli; Diego Vozzi; Nienke Wieskamp; Carmela Ziviello; Vincenzo Nigro
Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.
PloS one 2012;7(8):e43799.
2012: Gabriella Cotugno; Marianthi Karali; Patrizia Annunziata; Sandro Banfi; Maria Vittoria Barone; Alberto Auricchio
Impact of age at administration, lysosomal storage, and transgene regulatory elements on AAV2/8-mediated rat liver transduction.
PloS one 2012;7(3):e33286.
2011: Vincenzo Gennarino; Marco Sardiello; Margherita Mutarelli; Gopuraja Dharmalingam; Vincenza Maselli; Giampiero Lago; Sandro Banfi
HOCTAR database: a unique resource for microRNA target prediction.
Gene 2011;480(1-2):51-8.
2011: Marianthi Karali; Anna Manfredi; Elena Marrocco; Agostina Puppo; Settimio Rossi; Francesca Simonelli; Enrico M Surace; Maria Laura Bacci; Sandro Banfi; Michele Della Corte; Annagiusi Gargiulo; Massimo Giunti; Mariacarmela Allocca; Alberto Auricchio
MicroRNA-restricted transgene expression in the retina.
PloS one 2011;6(7):e22166.
2011: Diego Vozzi; Carmela Ziviello; Anu Aaspõllu; Emmanouil Athanasakis; Sandro Banfi; Anna Berto; Antonella Fabretto; Maigi Külm; Danilo Licastro; martini alessandro; Francesca Simonelli; Francesco Testa; P Trevisi; Marju Vahter; Paolo Gasparini
Molecular epidemiology of Usher syndrome in Italy.
Molecular vision 2011;17():1662-8.
2011: Giovanna Alfano; Ivan Conte; Tiziana Caramico; Raffaella Avellino; Benedetta Arnò; Maria Teresa Pizzo; Naoyuki Tanimoto; Susanne C Beck; Gesine Huber; Pascal Dollé; Mathias W Seeliger; Sandro Banfi
Vax2 regulates retinoic acid distribution and cone opsin expression in the vertebrate eye.
Development (Cambridge, England) 2011;138(2):261-71.
2010: Ivan Conte; Sabrina Carrella; Raffaella Avellino; Marianthi Karali; Raquel Marco-Ferreres; Paola Bovolenta; Sandro Banfi
miR-204 is required for lens and retinal development via Meis2 targeting.
Proceedings of the National Academy of Sciences of the United States of America 2010;107(35):15491-6.
2010: Francesca Simonelli; Albert M Maguire; Francesco Testa; Eric A Pierce; Federico Mingozzi; Jeannette L Bennicelli; Settimio Rossi; Kathleen Marshall; Sandro Banfi; Enrico M Surace; Junwei Sun; T Michael Redmond; Xiaosong Zhu; Kenneth S Shindler; Gui-Shuang Ying; Carmela Ziviello; Carmela Acerra; J Fraser Wright; Jennifer Wellman McDonnell; Katherine A High; Jean Bennett; Alberto Auricchio
Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration.
Molecular therapy : the journal of the American Society of Gene Therapy 2010;18(3):643-50.
2010: Marianthi Karali; Ivana Peluso; Vincenzo A Gennarino; Marchesa Bilio; Roberta Verde; Giampiero Lago; Pascal Dollé; Sandro Banfi
miRNeye: a microRNA expression atlas of the mouse eye.
BMC genomics 2010;11():715.
2010: Rossella De Cegli; Antonio Romito; Simona Iacobacci; Lei Mao; mario Lauria; Anthony O Fedele; Joachim Klose; Christelle Borel; Patrick Descombes; Stylianos E Antonarakis; Diego di Bernardo; Sandro Banfi; Andrea Ballabio; Gilda Cobellis
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes.
Genome biology 2010;11(6):R64.
2010: Danilo Licastro; Vincenzo A Gennarino; Francesca Petrera; Remo Sanges; Sandro Banfi; Elia Stupka
Promiscuity of enhancer, coding and non-coding transcription functions in ultraconserved elements.
BMC genomics 2010;11():151.
2009: Marco Sardiello; Michela Palmieri; Alberto di Ronza; Diego Luis Medina; Marta Valenza; Vincenzo Gennarino; Chiara Di Malta; Francesca Donaudy; Valerio Embrione; Roman S Polishchuk; Sandro Banfi; Giancarlo Parenti; Elena Cattaneo; Andrea Ballabio
A gene network regulating lysosomal biogenesis and function.
Science (New York, N.Y.) 2009;325(5939):473-7.
2009: Vincenzo Gennarino; Marco Sardiello; Raffaella Avellino; Nicola Meola; Vincenza Maselli; Santosh Anand; Luisa Cutillo; Andrea Ballabio; Sandro Banfi
MicroRNA target prediction by expression analysis of host genes.
Genome research 2009;19(3):481-90.
2009: Nicola Meola; Vincenzo Gennarino; Sandro Banfi
microRNAs and genetic diseases.
PathoGenetics 2009;2(1):7.
2008: Dragana Trifunovic; Marianthi Karali; Davide Camposampiero; Diego Ponzin; Sandro Banfi; Valeria Marigo
A high-resolution RNA expression atlas of retinitis pigmentosa genes in human and mouse retinas.
Investigative ophthalmology & visual science 2008;49(6):2330-6.
2007: Valerio Costa; Ivan Conte; Carmela Ziviello; Amelia Casamassimi; Giovanna Alfano; Sandro Banfi; Alfredo Ciccodicola
Identification and expression analysis of novel Jakmip1 transcripts.
Gene 2007;402(1-2):1-8.
2007: Francesca Simonelli; Carmela Ziviello; Francesco Testa; Settimio Rossi; Elisa Fazzi; Paolo Emilio Bianchi; Maurizio Fossarello; Sabrina Signorini; Chiara Bertone; silvana galantuomo; Francesco Brancati; Enza Maria Valente; Alfredo Ciccodicola; Ernesto Rinaldi; Alberto Auricchio; Sandro Banfi
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.
Investigative ophthalmology & visual science 2007;48(9):4284-90.
2007: Marianthi Karali; Ivana Peluso; Valeria Marigo; Sandro Banfi
Identification and characterization of microRNAs expressed in the mouse eye.
Investigative ophthalmology & visual science 2007;48(2):509-15.
2007: Frans P M Cremers; William J Kimberling; Maigi Külm; Arjan de Brouwer; Erwin van Wijk; Heleen te Brinke; Cor W R J Cremers; Lies Hoefsloot; Sandro Banfi; Francesca Simonelli; Johannes C Fleischhauer; Wolfgang Berger; Philip M Kelley; Elene Haralambous; Maria Bitner-Glindzicz; Andrew R Webster; Zubin Saihan; Elfride De Baere; Bart P Leroy; Giuliana Silvestri; Gareth J McKay; Robert K Koenekoop; Jose M Millan; Thomas Rosenberg; Tarja Joensuu; Eeva-Marja Sankila; Dominique Weil; Michael D Weston; Bernd Wissinger; Hannie Kremer
Development of a genotyping microarray for Usher syndrome.
Journal of medical genetics 2007;44(2):153-60.
2006: Francesco Testa; Carmela Ziviello; M Rinaldi; Settimio Rossi; V Di Iorio; Emanuela Interlandi; Alfredo Ciccodicola; Sandro Banfi; Francesca Simonelli
Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene.
European journal of ophthalmology 2006;16(5):779-81.
2006: Dario Antonini; Barbara Rossi; Rong Han; Annunziata Minichiello; Tina Di Palma; Marcella Corrado; Sandro Banfi; Mariastella Zannini; Janice L Brissette; Caterina Missero
An autoregulatory loop directs the tissue-specific expression of p63 through a long-range evolutionarily conserved enhancer.
Molecular and cellular biology 2006;26(8):3308-18.
2005: Carmela Ziviello; Francesca Simonelli; Francesco Testa; M Anastasi; S B Marzoli; Benedetto Falsini; D Ghiglione; C Macaluso; Maria Pia Manitto; Cecilia Garrè; Alfredo Ciccodicola; Ernesto Rinaldi; Sandro Banfi
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families.
Journal of medical genetics 2005;42(7):e47.
2005: Giovanna Alfano; Carmen Vitiello; Cristina Caccioppoli; Tiziana Caramico; Antonietta Carola; Michael J Szego; Roderick R McInnes; Alberto Auricchio; Sandro Banfi
Natural antisense transcripts associated with genes involved in eye development.
Human molecular genetics 2005;14(7):913-23.
2005: C Vitiello; P D'Adamo; F Gentile; E M Vingolo; P Gasparini; Sandro Banfi
A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly.
American journal of medical genetics. Part A 2005;133A(1):58-60.
2005: Angelo Boccia; Mauro Petrillo; Diego di Bernardo; Alessandro Guffanti; Flavio Mignone; Stefano Confalonieri; Lucilla Luzi; Graziano Pesole; Giovanni Paolella; Andrea Ballabio; Sandro Banfi
DG-CST (Disease Gene Conserved Sequence Tags), a database of human-mouse conserved elements associated to disease genes.
Nucleic acids research 2005;33(Database issue):D505-10.
2004: Alessandro Bulfone; Cristina Caccioppoli; Celia Pardini; Andrea Faedo; Salvador Martinez; Sandro Banfi
Pcp4l1, a novel gene encoding a Pcp4-like polypeptide, is expressed in specific domains of the developing brain.
Gene expression patterns : GEP 2004;4(3):297-301.
2003: Francesca Simonelli; Gilda Cennamo; Carmela Ziviello; Francesco Testa; giuseppe de crecchio; Anna Nesti; Maria Pia Manitto; Alfredo Ciccodicola; Sandro Banfi; Rosario Brancato; Ernesto Rinaldi
Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families.
The British journal of ophthalmology 2003;87(9):1130-4.
2003: Giovanni Lavorgna; Marta Lestingi; Carmela Ziviello; Francesco Testa; Francesca Simonelli; Maria Pia Manitto; Rosario Brancato; Maurizio Ferrari; Ernesto Rinaldi; Alfredo Ciccodicola; Sandro Banfi
Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.
Biochemical and biophysical research communications 2003;308(3):414-21.
2003: Maria I Ferrante; Adriano Barra; Jean-Pierre Truong; Sandro Banfi; Christine M Disteche; Brunella Franco
Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant.
Genomics 2003;81(6):560-9.
2003: Ivan Conte; Marta Lestingi; Anneke den Hollander; Giovanna Alfano; Carmela Ziviello; Mariarosaria Pugliese; Diego Circolo; Cristina Caccioppoli; Alfredo Ciccodicola; Sandro Banfi
Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations.
European journal of human genetics : EJHG 2003;11(2):155-62.
2002: Alexandre Reymond; Valeria Marigo; Murat B Yaylaoglu; Antonio Leoni; Catherine Ucla; Nathalie Scamuffa; Cristina Caccioppoli; Emmanouil T Dermitzakis; Robert Lyle; Sandro Banfi; Gregor Eichele; Stylianos E Antonarakis; Andrea Ballabio
Human chromosome 21 gene expression atlas in the mouse.
Nature 2002;420(6915):582-6.
2002: Ivan Conte; Marta Lestingi; Anneke den Hollander; Maria Giuseppina Miano; Giovanna Alfano; Diego Circolo; Mariarosaria Pugliese; Francesco Testa; Francesca Simonelli; Ernesto Rinaldi; Montserrat Baiget; Sandro Banfi; Alfredo Ciccodicola
Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.
Gene 2002;297(1-2):33-8.
2002: Anna Maria Barbieri; Vania Broccoli; Paola Bovolenta; Giovanna Alfano; Anna Marchitiello; Cristina Mocchetti; Luca Crippa; Alessandro Bulfone; Valeria Marigo; Andrea Ballabio; Sandro Banfi
Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibres and eye coloboma.
Development (Cambridge, England) 2002;129(3):805-13.
2000: Pasquale Buanne; Giuseppina Corrente; Laura Micheli; Antonella Palena; Patrizia Lavia; Corrado Spadafora; Madepalli K Lakshmana; A Rinaldi; Sandro Banfi; M Quarto; Alessandro Bulfone; Felice Tirone
Cloning of PC3B, a novel member of the PC3/BTG/TOB family of growth inhibitory genes, highly expressed in the olfactory epithelium.
Genomics 2000;68(3):253-63.
2000: Alessandro Bulfone; E Menguzzato; Vania Broccoli; Anna Marchitiello; C Gattuso; Margherita Mariani; G Giacomo Consalez; S Martinez; Andrea Ballabio; Sandro Banfi
Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS.
Human molecular genetics 2000;9(9):1443-52.
2000: M Coppola; A Pizzigoni; Sandro Banfi; Maria Teresa Bassi; G Casari; B Incerti
Identification and characterization of YME1L1, a novel paraplegin-related gene.
Genomics 2000;66(1):48-54.
1999: M Piccini; F Vitelli; Marco Seri; L J Galietta; Oscar Moran; Alessandro Bulfone; Sandro Banfi; Barbara R Pober; Alessandra Renieri
KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs.
Genomics 1999;60(3):251-7.
1999: A M Barbieri; Giuseppe Lupo; Alessandro Bulfone; Massimiliano Andreazzoli; Margherita Mariani; F Fougerousse; G Giacomo Consalez; Giuseppe Borsani; Jacques Beckmann; Giuseppina Barsacchi; Andrea Ballabio; Sandro Banfi
A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(19):10729-34.
1999: Sandro Banfi; Maria Teresa Bassi; Gennaro Andolfi; Anna Marchitiello; S Zanotta; Andrea Ballabio; G Casari; Brunella Franco
Identification and characterization of AFG3L2, a novel paraplegin-related gene.
Genomics 1999;59(1):51-8.
1999: M Volta; Alessandro Bulfone; C Gattuso; E Rossi; Margherita Mariani; G Giacomo Consalez; Orsetta Zuffardi; Andrea Ballabio; Sandro Banfi; Brunella Franco
Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene.
Genomics 1999;55(1):68-77.
1999: Giuseppe Borsani; A DeGrandi; Andrea Ballabio; Alessandro Bulfone; L Bernard; Sandro Banfi; C Gattuso; Margherita Mariani; M Dixon; D Donnai; K Metcalfe; R Winter; M Robertson; RA Axton; A Brown; Veronica van Heyningen; Isabel M Hanson
EYA4, a novel vertebrate gene related to Drosophila eyes absent.
Human molecular genetics 1999;8(1):11-23.
1998: Alessandro Bulfone; C Gattuso; Anna Marchitiello; Celia Pardini; E Boncinelli; Giuseppe Borsani; Sandro Banfi; Andrea Ballabio
The embryonic expression pattern of 40 murine cDNAs homologous to Drosophila mutant genes (Dres): a comparative and topographic approach to predict gene function.
Human molecular genetics 1998;7(13):1997-2006.
1998: L de Conciliis; Anna Marchitiello; M C Wapenaar; Giuseppe Borsani; S Giglio; Margherita Mariani; G Giacomo Consalez; Orsetta Zuffardi; Brunella Franco; Andrea Ballabio; Sandro Banfi
Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains.
Genomics 1998;51(2):243-50.
1998: Sandro Banfi; Alessandro Guffanti; Giuseppe Borsani
How to get the best of dbEST.
Trends in genetics : TIG 1998;14(2):80-1.
1998: Sara Volorio; G Simon; M Repetto; M Cucciardi; Sandro Banfi; Giuseppe Borsani; Andrea Ballabio; Massimo Zollo
Sequencing analysis of forty-eight human image cDNA clones similar to Drosophila mutant protein.
DNA sequence : the journal of DNA sequencing and mapping 1998;9(5-6):307-15.
1998: Giuseppe Borsani; Andrea Ballabio; Sandro Banfi
A practical guide to orient yourself in the labyrinth of genome databases.
Human molecular genetics 1998;7(10):1641-8.
1997: F Rubboli; Alessandro Bulfone; S Bogni; Anna Marchitiello; Massimo Zollo; Giuseppe Borsani; Andrea Ballabio; Sandro Banfi
A mammalian homologue of the Drosophila retinal degeneration B gene: implications for the evolution of phototransduction mechanisms.
Genes and function 1997;1(3):205-13.
1997: F Rob Jackson; Sandro Banfi; Alessandro Guffanti; E Rossi
A novel zinc finger-containing RNA-binding protein conserved from fruitflies to humans.
Genomics 1997;41(3):444-52.
1997: Alessandro Guffanti; Sandro Banfi; G Simon; Andrea Ballabio; Giuseppe Borsani
DRES search engine: of flies, men and ESTs.
Trends in genetics : TIG 1997;13(2):79-80.
1997: Sandro Banfi; Giuseppe Borsani; Alessandro Bulfone; Andrea Ballabio
Drosophila-related expressed sequences.
Human molecular genetics 1997;6(10):1745-53.
1996: Sandro Banfi; Giuseppe Borsani; E Rossi; L Bernard; Alessandro Guffanti; F Rubboli; Anna Marchitiello; Sabrina Giglio; E Coluccia; Massimo Zollo; Orsetta Zuffardi; A Ballabio
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching.
Nature genetics 1996;13(2):167-74.
1996: Sandro Banfi; A Servadio; M Chung; F Capozzoli; Lisa A Duvick; R Elde; Huda Y Zoghbi; Harry T Orr
Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1).
Human molecular genetics 1996;5(1):33-40.
1996: Sandro Banfi; Huda Y Zoghbi
Detection of chimerism in YAC clones.
Methods in molecular biology (Clifton, N.J.) 1996;54():115-21.
1994: Laura P W Ranum; M Y Chung; Sandro Banfi; A Bryer; Lawrence J Schut; Rajkumar Ramesar; Lisa A Duvick; A McCall; Sub H Subramony; L Goldfarb
Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset.
American journal of human genetics 1994;55(2):244-52.
1994: Sandro Banfi; Huda Y Zoghbi
Molecular genetics of hereditary ataxias.
Baillière's clinical neurology 1994;3(2):281-95.
1994: Sandro Banfi; A Servadio; M Y Chung; T J Kwiatkowski; A E McCall; Lisa A Duvick; Y Shen; E J Roth; Harry T Orr; Huda Y Zoghbi
Identification and characterization of the gene causing type 1 spinocerebellar ataxia.
Nature genetics 1994;7(4):513-20.
1993: Sandro Banfi; M Y Chung; T J Kwiatkowski; Laura P W Ranum; A E McCall; A Craig Chinault; Harry T Orr; Huda Y Zoghbi
Mapping and cloning of the critical region for the spinocerebellar ataxia type 1 gene (SCA1) in a yeast artificial chromosome contig spanning 1.2 Mb.
Genomics 1993;18(3):627-35.
1993: T J Kwiatkowski; Harry T Orr; Sandro Banfi; A E McCall; C Jodice; Francesca Persichetti; Andrea Novelletto; F LeBorgne-DeMarquoy; Lisa A Duvick; Marina Frontali
The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus.
American journal of human genetics 1993;53(2):391-400.
1993: Harry T Orr; M Y Chung; Sandro Banfi; T J Kwiatkowski; A Servadio; Arthur L Beaudet; A E McCall; Lisa A Duvick; Laura P W Ranum; Huda Y Zoghbi
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
Nature genetics 1993;4(3):221-6.
1992: Sandro Banfi; Susan Airhart; A Craig Chinault; Huda Y Zoghbi
An easy and rapid method for the detection of chimeric yeast artificial chromosome clones.
Nucleic acids research 1992;20(7):1814.