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Author/Creator Gimelli, Stefania

1. 13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients. Issue 1 (5th January 2007)

Authors:
Ballarati, Lucia; Rossi, Elena; Bonati, Maria Teresa; Gimelli, Stefania; Maraschio, Paola; Finelli, Palma; Giglio, Sabrina; Lapi, Elisabetta; Bedeschi, Maria Francesca; Guerneri, Silvana; Arrigo, Giulia; Patricelli, Maria Grazia; Mattina, Teresa; Guzzardi, Oriana; Pecile, Vanna; Police, Adalgisa;...
Journal:
Journal of medical genetics
Issue:
Volume 44:Issue 1(2007)
Page Start:
e60
Record Type:
Journal Article
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2. Assessment of copy number variations in 120 patients with Poland syndrome. Issue 1 (December 2016)

Authors:
Vaccari, Carlotta; Tassano, Elisa; Torre, Michele; Gimelli, Stefania; Divizia, Maria; Romanini, Maria; Bossi, Simone; Musante, Ilaria; Valle, Maura; Senes, Filippo; Catena, Nunzio; Bedeschi, Maria; Baban, Anwar; Calevo, Maria; Acquaviva, Massimo; Lerone, Margherita; Ravazzolo, Roberto; Puliti, Al...
Journal:
BMC medical genetics
Issue:
Volume 17:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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3. Assessment of copy number variations in 120 patients with Poland syndrome. Issue 1 (December 2016)

Authors:
Vaccari, Carlotta; Tassano, Elisa; Torre, Michele; Gimelli, Stefania; Divizia, Maria; Romanini, Maria; Bossi, Simone; Musante, Ilaria; Valle, Maura; Senes, Filippo; Catena, Nunzio; Bedeschi, Maria; Baban, Anwar; Calevo, Maria; Acquaviva, Massimo; Lerone, Margherita; Ravazzolo, Roberto; Puliti, Al...
Journal:
BMC medical genetics
Issue:
Volume 17:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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4. Brief Report: Isogenic Induced Pluripotent Stem Cell Lines From an Adult With Mosaic Down Syndrome Model Accelerated Neuronal Ageing and Neurodegeneration. (21st May 2015)

Authors:
Murray, Aoife; Letourneau, Audrey; Canzonetta, Claudia; Stathaki, Elisavet; Gimelli, Stefania; Sloan‐Bena, Frederique; Abrehart, Robert; Goh, Pollyanna; Lim, Shuhui; Baldo, Chiara; Dagna‐Bricarelli, Franca; Hannan, Saad; Mortensen, Martin; Ballard, David; Syndercombe Court, Denise; Fusaki, Noemi;...
Journal:
Stem cells
Issue:
Volume 33:Number 6(2015:Jun.)
Page Start:
2077
Record Type:
Journal Article
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5. Brief Report: Isogenic Induced Pluripotent Stem Cell Lines From an Adult With Mosaic Down Syndrome Model Accelerated Neuronal Ageing and Neurodegeneration. (June 2015)

Authors:
Murray, Aoife; Letourneau, Audrey; Canzonetta, Claudia; Stathaki, Elisavet; Gimelli, Stefania; Sloan‐Bena, Frederique; Abrehart, Robert; Goh, Pollyanna; Lim, Shuhui; Baldo, Chiara; Dagna‐Bricarelli, Franca; Hannan, Saad; Mortensen, Martin; Ballard, David; Syndercombe Court, Denise; Fusaki, Noemi;...
Journal:
Stem cells
Issue:
Volume 33:Number 6(2015:Jun.)
Page Start:
2077
Record Type:
Journal Article
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6. Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion. (5th February 2015)

Authors:
Tassano, Elisa; Jagannathan, Vidhya; Drögemüller, Cord; Leoni, Massimiliano; Hytönen, Marjo K.; Severino, Mariasavina; Gimelli, Stefania; Cuoco, Cristina; Di Rocco, Maja; Sanio, Kirsi; Groves, Andrew K.; Leeb, Tosso; Gimelli, Giorgio
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 3(2015:Mar.)
Page Start:
537
Record Type:
Journal Article
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7. Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families. Issue 10 (18th August 2014)

Authors:
Makrythanasis, Periklis; Nelis, Mari; Santoni, Federico A.; Guipponi, Michel; Vannier, Anne; Béna, Frédérique; Gimelli, Stefania; Stathaki, Elisavet; Temtamy, Samia; Mégarbané, André; Masri, Amira; Aglan, Mona S.; Zaki, Maha S.; Bottani, Armand; Fokstuen, Siv; Gwanmesia, Lorraine; Aliferis, Konst...
Journal:
Human mutation
Issue:
Volume 35:Issue 10(2014:Oct.)
Page Start:
1203
Record Type:
Journal Article
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8. Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. Issue 3 (14th October 2009)

Authors:
Thienpont, Bernard; Béna, Frédérique; Breckpot, Jeroen; Philip, Nicole; Menten, Björn; Van Esch, Hilde; Scalais, Emmanuel; Salamone, Jessica M; Fong, Chin-To; Kussmann, Jennifer L; Grange, Dorothy K; Gorski, Jerome L; Zahir, Farah; Yong, Siu Li; Morris, Michael M; Gimelli, Stefania; Fryns, Jean-P...
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 3(2010)
Page Start:
155
Record Type:
Journal Article
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9. Heterozygous Deletion of Chorein Exons 70-73 and GNA14 Exons 3-7 in a Brazilian Patient Presenting With Probable Tau-Negative Early-Onset Alzheimer Disease. (January 2017)

Authors:
Lazarczyk, Maciej J.; Haller, Sven; Savioz, Armand; Gimelli, Stefania; Bena, Frédérique; Giannakopoulos, Panteleimon
Journal:
Alzheimer disease and associated disorders
Issue:
Volume 31:Number 1(2017)
Page Start:
Record Type:
Journal Article
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