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Literature DB >> 21540884

Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.

Sebastien Jacquemont¹, Stefanie Birnbaum, Silke Redler, Peter Steinbach, Valérie Biancalana.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 2011 PMID： 21540884 PMCID： PMC3179358 DOI： 10.1038/ejhg.2011.55

Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246

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104 in total

1. Communication of genetic risk information to daughters in families with fragile X syndrome: the parent's perspective.

Authors: Allyn McConkie-Rosell; Jacqueline Del Giorno; Elizabeth Melvin Heise
Journal: J Genet Couns Date: 2010-09-28 Impact factor: 2.537

2. Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.

Authors: Sébastien Jacquemont; Aurore Curie; Vincent des Portes; Maria Giulia Torrioli; Elizabeth Berry-Kravis; Randi J Hagerman; Feliciano J Ramos; Kim Cornish; Yunsheng He; Charles Paulding; Giovanni Neri; Fei Chen; Nouchine Hadjikhani; Danielle Martinet; Joanne Meyer; Jacques S Beckmann; Karine Delange; Amandine Brun; Gerald Bussy; Fabrizio Gasparini; Talita Hilse; Annette Floesser; Janice Branson; Graeme Bilbe; Donald Johns; Baltazar Gomez-Mancilla
Journal: Sci Transl Med Date: 2011-01-05 Impact factor: 17.956

3. Length of uninterrupted CGG repeats determines instability in the FMR1 gene.

Authors: E E Eichler; J J Holden; B W Popovich; A L Reiss; K Snow; S N Thibodeau; C S Richards; P A Ward; D L Nelson
Journal: Nat Genet Date: 1994-09 Impact factor: 38.330

4. Fine structure of the human FMR1 gene.

Authors: E E Eichler; S Richards; R A Gibbs; D L Nelson
Journal: Hum Mol Genet Date: 1993-08 Impact factor: 6.150

5. Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.

Authors: A McConkie-Rosell; A M Lachiewicz; G A Spiridigliozzi; J Tarleton; S Schoenwald; M C Phelan; P Goonewardena; X Ding; W T Brown
Journal: Am J Hum Genet Date: 1993-10 Impact factor: 11.025

6. Fragile X syndrome in a normal IQ male with learning and emotional problems.

Authors: S A Merenstein; V Shyu; W E Sobesky; L Staley; E Berry-Kravis; D L Nelson; K A Lugenbeel; A K Taylor; B F Pennington; R J Hagerman
Journal: J Am Acad Child Adolesc Psychiatry Date: 1994 Nov-Dec Impact factor: 8.829

7. High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression.

Authors: R J Hagerman; C E Hull; J F Safanda; I Carpenter; L W Staley; R A O'Connor; C Seydel; M M Mazzocco; K Snow; S N Thibodeau
Journal: Am J Med Genet Date: 1994-07-15

8. Rapid antibody test for fragile X syndrome.

Authors: R Willemsen; S Mohkamsing; B de Vries; D Devys; A van den Ouweland; J L Mandel; H Galjaard; B Oostra
Journal: Lancet Date: 1995-05-06 Impact factor: 79.321

9. No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations.

Authors: F Rousseau; L J Robb; P Rouillard; V M Der Kaloustian
Journal: Hum Mol Genet Date: 1994-06 Impact factor: 6.150

10. Mental status and fragile X expression in relation to FMR-1 gene mutation.

Authors: B B de Vries; A M Wiegers; E de Graaff; A J Verkerk; J O Van Hemel; D J Halley; J P Fryns; L M Curfs; M F Niermeijer; B A Oostra
Journal: Eur J Hum Genet Date: 1993 Impact factor: 4.246

7 in total

Review 1. Location-dependent signaling of the group 1 metabotropic glutamate receptor mGlu5.

Authors: Yuh-Jiin I Jong; Ismail Sergin; Carolyn A Purgert; Karen L O'Malley
Journal: Mol Pharmacol Date: 2014-10-17 Impact factor: 4.436

2. Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

Authors: Angélique Quartier; Hélène Poquet; Brigitte Gilbert-Dussardier; Massimiliano Rossi; Anne-Sophie Casteleyn; Vincent des Portes; Claire Feger; Elsa Nourisson; Paul Kuentz; Claire Redin; Julien Thevenon; Anne-Laure Mosca-Boidron; Patrick Callier; Jean Muller; Gaetan Lesca; Frédéric Huet; Véronique Geoffroy; Salima El Chehadeh; Matthieu Jung; Benoit Trojak; Stéphanie Le Gras; Daphné Lehalle; Bernard Jost; Stéphanie Maury; Alice Masurel; Patrick Edery; Christel Thauvin-Robinet; Bénédicte Gérard; Jean-Louis Mandel; Laurence Faivre; Amélie Piton
Journal: Eur J Hum Genet Date: 2017-02-08 Impact factor: 4.246

3. A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis.

Authors: Marina Grasso; Elles M J Boon; Stela Filipovic-Sadic; Patrick A van Bunderen; Elena Gennaro; Ru Cao; Gary J Latham; Andrew G Hadd; Domenico A Coviello
Journal: J Mol Diagn Date: 2013-10-29 Impact factor: 5.568

7. EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.

Authors: Valérie Biancalana; Dieter Glaeser; Shirley McQuaid; Peter Steinbach
Journal: Eur J Hum Genet Date: 2014-09-17 Impact factor: 4.246