Non-invasive prenatal testing leading to a maternal diagnosis of Charcot–Marie–Tooth neuropathy
Kumps, Camille, Niel Bütschi, Florence, Rapin, Blandine, Baud, David, Pescia, Graziano, Robyr, Daniel, Superti-Furga, Andrea, Unger, Sheila
Published in Journal of human genetics (01.11.2020)
Published in Journal of human genetics (01.11.2020)
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Journal Article
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
Korvatska, Elena, Schorderet, Daniel F, Zografos, Leonidas, Pescia, Graziano, Paslier, Denis Le, Munier, Francis L, Djemaï, Assia
Published in Nature genetics (01.03.1997)
Published in Nature genetics (01.03.1997)
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Journal Article
Cell-free DNA testing of an extended range of chromosomal anomalies: clinical experience with 6,388 consecutive cases
Pescia, Graziano, Guex, Nicolas, Iseli, Christian, Brennan, Liam, Osteras, Magne, Xenarios, Ioannis, Farinelli, Laurent, Conrad, Bernard
Published in Genetics in medicine (01.02.2017)
Published in Genetics in medicine (01.02.2017)
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Journal Article
Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic study
Ramelli, Gian Paolo, Silacci, Charlotte, Ferrarini, Alessandra, Cattaneo, Claudio, Visconti, Paola, Pescia, Graziano
Published in Developmental medicine and child neurology (01.12.2008)
Published in Developmental medicine and child neurology (01.12.2008)
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Journal Article
Maternally inherited Leigh syndrome
Ciafaloni, Emma, Santorelli, Filippo M., Shanske, Sara, Deonna, Thierry, Roulel, Eliane, Janzer, Charles, Pescia, Graziano, DiMauro, Salvatore
Published in The Journal of pediatrics (01.03.1993)
Published in The Journal of pediatrics (01.03.1993)
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Journal Article
METHOD FOR NON-INVASIVE PRENATAL TESTING
CONRAD, Bernard, FARINELLI, Laurent, PESCIA, Graziano, ØSTERAS, Magne
Year of Publication 08.06.2017
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Year of Publication 08.06.2017
Patent
Evidence of Somatic and Germinal Mosaicism in Pseudo–Low-Penetrant Hereditary Retinoblastoma, by Constitutional and Single-Sperm Mutation Analysis
Munier, Francis L., Thonney, Francine, Girardet, Anne, Balmer, Aubin, Claustre, Mireille, Pellestor, Frank, Senn, Alfred, Pescia, Graziano, Schorderet, Daniel F.
Published in American journal of human genetics (01.12.1998)
Published in American journal of human genetics (01.12.1998)
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Journal Article
Further delineation of the facial 13q14 deletion syndrome in 13 retinoblastoma patients
Bojinova, Rossiana I., Schorderet, Daniel F., Addor, Marie-Claude, Gaide, Anne-Claude, Thonney, Francine, Pescia, Graziano, Nenadov-Beck, Maja, Balmer, Aubin, Munier, Francis L.
Published in Ophthalmic genetics (2001)
Published in Ophthalmic genetics (2001)
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Journal Article
Delineation of a 1-cM region on distal 5q containing the locus for corneal dystrophies Groenouw type I and lattice type I and exclusion of the candidate genes SPARC and LOX
Korvatska, E, Munier, F L, Zografos, L, Ahmad, F, Faggioni, R, Dolivo-Beuret, A, Uffer, S, Pescia, G, Schorderet, D F
Published in European journal of human genetics : EJHG (1996)
Published in European journal of human genetics : EJHG (1996)
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Journal Article
Paternal selection favoring mutant alleles of the retinoblastoma susceptibility gene
Munier, F, Spence, M A, Pescia, G, Balmer, A, Gailloud, C, Thonney, F, van Melle, G, Rutz, H P
Published in Human genetics (01.07.1992)
Published in Human genetics (01.07.1992)
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Journal Article
Sex mutation ratio in retinoblastoma and retinoma: relevance to genetic counseling
Munier, F L, Thonney, F, Balmer, A, Héon, E, Pescia, G, Schorderet, D F
Published in Klinische Monatsblätter für Augenheilkunde (01.05.1996)
Published in Klinische Monatsblätter für Augenheilkunde (01.05.1996)
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Journal Article
A "new" allele of esterase D in a retinoblastoma family
Munier, F, Pescia, G, Balmer, A, Bär, W, Roth, M, Dimo-Simonin, N, Weidinger, S
Published in Human genetics (01.03.1988)
Published in Human genetics (01.03.1988)
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Journal Article
Le dépistage précoce des aneuploïdies fœtales (test C-βP/US). A propos de 600 observations
PESCIA, G, DITESHEIM, P.-J, FAWAY, C, NGUYEN-THE, H, SCHMID, D, BRIOSCHI, P.-A
Published in Revue médicale de la Suisse romande (01.05.2000)
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Published in Revue médicale de la Suisse romande (01.05.2000)
Journal Article
Pseudo low penetrance in retinoblastoma. Fortuitous familial aggregation of sporadic cases caused by independently derived mutations in two large pedigrees
Munier, F L, Wang, M X, Spence, M A, Thonney, F, Balmer, A, Pescia, G, Donoso, L A, Murphree, A L
Published in Archives of ophthalmology (1960) (01.11.1993)
Published in Archives of ophthalmology (1960) (01.11.1993)
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Journal Article
The XXXY Klinefelter syndrome in childhood
Ferrier, P E, Ferrier, S A, Pescia, G
Published in American journal of diseases of children (1960) (01.01.1974)
Published in American journal of diseases of children (1960) (01.01.1974)
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Journal Article