scholarly journals NF1 Microdeletion Syndrome: Refined FISH Characterization of Sporadic and Familial Deletions with Locus-Specific Probes

2000 ◽  
Vol 66 (1) ◽  
pp. 100-109 ◽  
Author(s):  
Paola Riva ◽  
Lucia Corrado ◽  
Federica Natacci ◽  
Pierangela Castorina ◽  
Bai-Li Wu ◽  
...  
Keyword(s):  
Microdeletion Syndrome ◽  
Nf1 Microdeletion Syndrome

A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome

2021 ◽  
Vol 64 (5) ◽  
pp. 104190
Author(s):  
Claudia Santoro ◽  
Simona Riccio ◽  
Federica Palladino ◽  
Ferdinando Aliberti ◽  
Marco Carotenuto ◽  
...  
Keyword(s):  
Complex Phenotype ◽  
Microdeletion Syndrome ◽  
Nf1 Microdeletion Syndrome

Poster #S21 CHARACTERIZATION OF A MOUSE MODEL OF THE 1Q21.1 MICRODELETION SYNDROME

2014 ◽  
Vol 153 ◽  
pp. S95
Author(s):  
Jacob Nielsen ◽  
K.W. Fejgin ◽  
Sotty Florence ◽  
J.B. Lauridsen ◽  
V. Nielsen ◽  
...  
Keyword(s):  
Mouse Model ◽  
Microdeletion Syndrome

scholarly journals Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation

2011 ◽  
Vol 54 (2) ◽  
pp. 144-151 ◽  
Author(s):  
Christèle Dubourg ◽  
Damien Sanlaville ◽  
Martine Doco-Fenzy ◽  
Cédric Le Caignec ◽  
Chantal Missirian ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Molecular Characterization ◽  
Microdeletion Syndrome

Refined FISH characterization of a de novo 1p22-p36.2 paracentric inversion and associated 1p21-22 deletion in a patient with signs of 1p36 microdeletion syndrome

2001 ◽  
Vol 99 (4) ◽  
pp. 308-313 ◽  
Author(s):  
Palma Finelli ◽  
Daniela Giardino ◽  
Silvia Russo ◽  
Giulietta Gottardi ◽  
Francesca Cogliati ◽  
...  
Keyword(s):  
De Novo ◽  
Paracentric Inversion ◽  
Microdeletion Syndrome

scholarly journals 3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome

2005 ◽  
Vol 77 (1) ◽  
pp. 154-160 ◽  
Author(s):  
Lionel Willatt ◽  
James Cox ◽  
John Barber ◽  
Elisabet Dachs Cabanas ◽  
Amanda Collins ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Microdeletion Syndrome ◽  
3Q29 Microdeletion

Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome

2015 ◽  
Vol 167 (6) ◽  
pp. 1369-1373 ◽  
Author(s):  
Ines Quintela ◽  
Francisco Barros ◽  
Manuel Castro-Gago ◽  
Angel Carracedo ◽  
Jesus Eiris
Keyword(s):  
Male Patient ◽  
Microdeletion Syndrome

scholarly journals Characterization of a recurrent 15q24 microdeletion syndrome

2007 ◽  
Vol 16 (5) ◽  
pp. 567-572 ◽  
Author(s):  
Andrew J. Sharp ◽  
Rebecca R. Selzer ◽  
Joris A. Veltman ◽  
Stefania Gimelli ◽  
Giorgio Gimelli ◽  
...  
Keyword(s):  
Microdeletion Syndrome

Molecular, physiological and behavioral characterization of the heterozygous Df[h15q13]/+ mouse model associated with the human 15q13.3 microdeletion syndrome

2020 ◽  
Vol 1746 ◽  
pp. 147024
Author(s):  
Katherine A. Rees ◽  
Amal A. Halawa ◽  
Daisy Consuegra-Garcia ◽  
Victoria M. Golub ◽  
Bryan L. Clossen ◽  
...  
Keyword(s):  
Mouse Model ◽  
Microdeletion Syndrome ◽  
Behavioral Characterization

scholarly journals Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype

2011 ◽  
Vol 89 (2) ◽  
pp. 295-301 ◽  
Author(s):  
María Palomares ◽  
Alicia Delicado ◽  
Elena Mansilla ◽  
María Luisa de Torres ◽  
Elena Vallespín ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Microdeletion Syndrome
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