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Literature DB >> 12746398

The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism.

D Castermans, V Wilquet, E Parthoens, C Huysmans, J Steyaert, L Swinnen, J-P Fryns, W Van de Ven, K Devriendt.

Abstract

Entities: Chemical Disease Gene Species

Mesh：

Substances：

Year: 2003 PMID： 12746398 PMCID： PMC1735479 DOI： 10.1136/jmg.40.5.352

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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57 in total

Review 1. A-kinase anchoring proteins as potential drug targets.

Authors: Jessica Tröger; Marie C Moutty; Philipp Skroblin; Enno Klussmann
Journal: Br J Pharmacol Date: 2012-05 Impact factor: 8.739

2. Mitochondrial and ion channel gene alterations in autism.

Authors: Moyra Smith; Pamela L Flodman; John J Gargus; Mariella T Simon; Kimberley Verrell; Richard Haas; Gail E Reiner; Robert Naviaux; Katherine Osann; M Anne Spence; Douglas C Wallace
Journal: Biochim Biophys Acta Date: 2012-04-17

3. Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.

Authors: Zehra Ordulu; Tammy Kammin; Harrison Brand; Vamsee Pillalamarri; Claire E Redin; Ryan L Collins; Ian Blumenthal; Carrie Hanscom; Shahrin Pereira; India Bradley; Barbara F Crandall; Pamela Gerrol; Mark A Hayden; Naveed Hussain; Bibi Kanengisser-Pines; Sibel Kantarci; Brynn Levy; Michael J Macera; Fabiola Quintero-Rivera; Erica Spiegel; Blair Stevens; Janet E Ulm; Dorothy Warburton; Louise E Wilkins-Haug; Naomi Yachelevich; James F Gusella; Michael E Talkowski; Cynthia C Morton
Journal: Am J Hum Genet Date: 2016-10-13 Impact factor: 11.025

4. NBEA: Developmental disease gene with early generalized epilepsy phenotypes.

Authors: Maureen S Mulhern; Constance Stumpel; Nicholas Stong; Han G Brunner; Louise Bier; Natalie Lippa; James Riviello; Rob P W Rouhl; Marlies Kempers; Rolph Pfundt; Alexander P A Stegmann; Mary K Kukolich; Aida Telegrafi; Anna Lehman; Elena Lopez-Rangel; Nada Houcinat; Magalie Barth; Nicolette den Hollander; Mariette J V Hoffer; Sarah Weckhuysen; Jolien Roovers; Tania Djemie; Diana Barca; Berten Ceulemans; Dana Craiu; Johannes R Lemke; Christian Korff; Heather C Mefford; Candace T Meyers; Zsuzsanna Siegler; Susan M Hiatt; Gregory M Cooper; E Martina Bebin; Lot Snijders Blok; Hermine E Veenstra-Knol; Evan H Baugh; Eva H Brilstra; Catharina M L Volker-Touw; Ellen van Binsbergen; Anya Revah-Politi; Elaine Pereira; Danielle McBrian; Mathilde Pacault; Bertrand Isidor; Cedric Le Caignec; Brigitte Gilbert-Dussardier; Frederic Bilan; Erin L Heinzen; David B Goldstein; Servi J C Stevens; Tristan T Sands
Journal: Ann Neurol Date: 2018-10-25 Impact factor: 10.422

5. Genome-wide interaction studies identify sex-specific risk alleles for nonsyndromic orofacial clefts.

Authors: Jenna C Carlson; Nichole L Nidey; Azeez Butali; Carmen J Buxo; Kaare Christensen; Frederic W-D Deleyiannis; Jacqueline T Hecht; L Leigh Field; Lina M Moreno-Uribe; Ieda M Orioli; Fernando A Poletta; Carmencita Padilla; Alexandre R Vieira; Seth M Weinberg; George L Wehby; Eleanor Feingold; Jeffrey C Murray; Mary L Marazita; Elizabeth J Leslie
Journal: Genet Epidemiol Date: 2018-09-11 Impact factor: 2.135

The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism.

Review 1. A-kinase anchoring proteins as potential drug targets.

2. Mitochondrial and ion channel gene alterations in autism.

3. Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.

4. NBEA: Developmental disease gene with early generalized epilepsy phenotypes.

5. Genome-wide interaction studies identify sex-specific risk alleles for nonsyndromic orofacial clefts.

Review 6. Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disorders.

Review 7. The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease.

8. Describing the hexapeptide identity platform between the influenza A H5N1 and Homo sapiens proteomes.

9. Genome-wide linkage using the Social Responsiveness Scale in Utah autism pedigrees.

10. The role of rare structural variants in the genetics of autism spectrum disorders.