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Valeria Brancolini
Valeria Brancolini
CERN, Geneva
Verified email at cern.ch
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Year
Alopecia Universalis Associated with a Mutation in the Human hairless Gene
W Ahmad, M Faiyaz ul Haque, V Brancolini, HC Tsou, S Ul Haque, ...
Science 279 (5351), 720-724, 1998
4221998
The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases
HC Tsou, DHF Teng, XL Ping, V Brancolini, T Davis, R Hu, XX Xie, ...
The American Journal of Human Genetics 61 (5), 1036-1043, 1997
1551997
Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype …
A Bolino, V Brancolini, F Bono, A Bruni, A Gambardella, G Romeo, ...
Human molecular genetics 5 (7), 1051-1054, 1996
1481996
A locus for autosomal recessive hypodontia with associated dental anomalies maps to chromosome 16q12. 1
W Ahmad, V Brancolini, MF ul Haque, HM Lam, S ul Haque, M Haider, ...
The American Journal of Human Genetics 62 (4), 987-991, 1998
1141998
The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28.
A Auricchio, V Brancolini, G Casari, PJ Milla, VV Smith, M Devoto, ...
American journal of human genetics 58 (4), 743, 1996
931996
Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease
LJ Andrew, V Brancolini, LS De la Pena, M Devoto, F Caeiro, ...
The American Journal of Human Genetics 64 (1), 136-145, 1999
721999
Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B)
A Gambardella, A Bolino, M Muglia, P Valentino, F Bono, RL Oliveri, ...
Neurology 50 (3), 799-801, 1998
521998
Five families with arginine519‐cysteine mutation in COL2A1: Evidence for three distinct founders
JF Bleasel, D Holderbaum, V Brancolini, RW Moskowitz, EL Considine, ...
Human mutation 12 (3), 172-176, 1998
401998
Capillary zone electrophoresis of polymerase chain reaction‐amplified DNA fragments in polymer networks: The case of GATT microsatellites in cystic fibrosis
C Gelfi, A Orsi, PG Righetti, V Brancolini, L Cremonesi, M Ferrari
Electrophoresis 15 (1), 640-643, 1994
391994
ul Haque
W Ahmad, V Brancolini
S., Haider, M., Maimon, A., Aita, VM, Owen, J., Brown, D., et al, 987-991, 1998
371998
Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy
A Malandrini, P Carrera, S Palmeri, T Cavallaro, GM Fabrizi, M Villanova, ...
Acta neuropathologica 92, 115-122, 1996
361996
Unusual clinical features and early brain MRI lesions in a family with cerebral autosomal dominant arteriopathy
A Malandrini, P Carrera, G Ciacci, S Gonnelli, M Villanova, S Palmeri, ...
Neurology 48 (5), 1200-1203, 1997
341997
Capillary electrophoresis in polymer networks for analysis of PCR products: detection of delta F508 mutation in cystic fibrosis
C Gelfi, PG Righetti, V Brancolini, L Cremonesi, M Ferrari
Clinical chemistry 40 (8), 1603-1605, 1994
311994
Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations
V Brancolini, L Cremonesi, E Belloni, E Pappalardo, R Bordoni, M Seia, ...
Human genetics 96, 312-318, 1995
281995
Exclusion of linkage between RET and neuronal intestinal dysplasia type B
V Barone, D Weber, Y Luo, V Brancolini, M Devoto, G Romeo
American journal of medical genetics 62 (2), 195-198, 1996
271996
Suggestive linkage of situs inversus and other left-right axis anomalies to chromosome 6p
E Vitale, V Brancolini, A De Rienzo, L Bird, V Allada, M Sklansky, ...
Journal of medical genetics 38 (3), 182-185, 2001
202001
Arg519‐Cys Mutation in COL2A1: Evidence for Multiple Foundersa ARG519‐CYS MUTATION IN COL2A1
JF Bleasel, D Holderaum, V Brancolini, RW Moskowitz, TM Haqqi, ...
Annals of the New York Academy of Sciences 785 (1), 215-218, 1996
131996
Antiochian genealogies in which idiopathic epilepsy presents familial conglomeration. Simulations of power for the detection of genetic linkage
M Arcos-Burgos, LG Palacio, I Jimenez, N Pineda, O Mora, JL Sanchez, ...
Revista de Neurologia 26 (149), 50-52, 1998
41998
Genetic linkage studies for the identification of cancer-related genes
V Brancolini, M Devoto
ANNALI-ISTITUTO SUPERIORE DI SANITA 32, 173-180, 1996
41996
Genealogías antioqueñas en las que la epilepsia idiomática presenta conglomeración familiar
M Arcos-Burgos, LG Palacio, I Jiménez, N Pineda, O Mora, JL Sánchez, ...
Rev. de Neurol 26, 50, 1998
21998
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