Literature DB >> 15472997

Intelligence in individuals with a neurofibromatosis type 1 microdeletion.

M J Descheemaeker, K Roelandts, T De Raedt, H Brems, J P Fryns, E Legius.   

Abstract

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Year:  2004        PMID： 15472997     DOI： 10.1002/ajmg.a.30346

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  15 in total

Review 1.  The Learning Disabilities Network (LeaDNet): using neurofibromatosis type 1 (NF1) as a paradigm for translational research.

Authors:  Maria T Acosta; Carrie E Bearden; F Xavier Castellanos; Xavier F Castellanos; Laurie Cutting; Ype Elgersma; Gerard Gioia; David H Gutmann; Yong-Seok Lee; Eric Legius; Maximillian Muenke; Kathryn North; Luis F Parada; Nancy Ratner; Kim Hunter-Schaedle; Alcino J Silva
Journal:  Am J Med Genet A       Date:  2012-07-20       Impact factor: 2.802

2.  Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2.

Authors:  Hildegard Kehrer-Sawatzki; Lan Kluwe; Carsten Fünsterer; Victor-Felix Mautner
Journal:  Hum Genet       Date:  2005-03-18       Impact factor: 4.132

Review 3.  The pathoetiology of neurofibromatosis 1.

Authors:  Eeva-Mari Jouhilahti; Sirkku Peltonen; Anthony M Heape; Juha Peltonen
Journal:  Am J Pathol       Date:  2011-03-31       Impact factor: 4.307

4.  Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation.

Authors:  J M Friedman; Agnes Baross; Allen D Delaney; Adrian Ally; Laura Arbour; Linlea Armstrong; Jennifer Asano; Dione K Bailey; Sarah Barber; Patricia Birch; Mabel Brown-John; Manqiu Cao; Susanna Chan; David L Charest; Noushin Farnoud; Nicole Fernandes; Stephane Flibotte; Anne Go; William T Gibson; Robert A Holt; Steven J M Jones; Giulia C Kennedy; Martin Krzywinski; Sylvie Langlois; Haiyan I Li; Barbara C McGillivray; Tarun Nayar; Trevor J Pugh; Evica Rajcan-Separovic; Jacqueline E Schein; Angelique Schnerch; Asim Siddiqui; Margot I Van Allen; Gary Wilson; Siu-Li Yong; Farah Zahir; Patrice Eydoux; Marco A Marra
Journal:  Am J Hum Genet       Date:  2006-07-25       Impact factor: 11.025

Review 5.  MAP'ing CNS development and cognition: an ERKsome process.

Authors:  Ivy S Samuels; Sulagna C Saitta; Gary E Landreth
Journal:  Neuron       Date:  2009-01-29       Impact factor: 17.173

6.  Understanding relationships between autism, intelligence, and epilepsy: a cross-disorder approach.

Authors:  Agnies M van Eeghen; Margaret B Pulsifer; Vanessa L Merker; Ann M Neumeyer; Elmer E van Eeghen; Ronald L Thibert; Andrew J Cole; Fawn A Leigh; Scott R Plotkin; Elizabeth A Thiele
Journal:  Dev Med Child Neurol       Date:  2012-12-04       Impact factor: 5.449

7.  Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions.

Authors:  Hildegard Kehrer-Sawatzki; Julia Vogt; Tanja Mußotter; Lan Kluwe; David N Cooper; Victor-Felix Mautner
Journal:  Neurogenetics       Date:  2012-05-13       Impact factor: 2.660

8.  High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Authors:  Kitiwan Rojnueangnit; Jing Xie; Alicia Gomes; Angela Sharp; Tom Callens; Yunjia Chen; Ying Liu; Meagan Cochran; Mary-Alice Abbott; Joan Atkin; Dusica Babovic-Vuksanovic; Christopher P Barnett; Melissa Crenshaw; Dennis W Bartholomew; Lina Basel; Gary Bellus; Shay Ben-Shachar; Martin G Bialer; David Bick; Bruce Blumberg; Fanny Cortes; Karen L David; Anne Destree; Anna Duat-Rodriguez; Dawn Earl; Luis Escobar; Marthanda Eswara; Begona Ezquieta; Ian M Frayling; Moshe Frydman; Kathy Gardner; Karen W Gripp; Concepcion Hernández-Chico; Kurt Heyrman; Jennifer Ibrahim; Sandra Janssens; Beth A Keena; Isabel Llano-Rivas; Kathy Leppig; Marie McDonald; Vinod K Misra; Jennifer Mulbury; Vinodh Narayanan; Naama Orenstein; Patricia Galvin-Parton; Helio Pedro; Eniko K Pivnick; Cynthia M Powell; Linda Randolph; Salmo Raskin; Jordi Rosell; Karol Rubin; Margretta Seashore; Christian P Schaaf; Angela Scheuerle; Meredith Schultz; Elizabeth Schorry; Rhonda Schnur; Elizabeth Siqveland; Amanda Tkachuk; James Tonsgard; Meena Upadhyaya; Ishwar C Verma; Stephanie Wallace; Charles Williams; Elaine Zackai; Jonathan Zonana; Conxi Lazaro; Kathleen Claes; Bruce Korf; Yolanda Martin; Eric Legius; Ludwine Messiaen
Journal:  Hum Mutat       Date:  2015-08-21       Impact factor: 4.878

Review 9.  Emerging genotype-phenotype relationships in patients with large NF1 deletions.

Authors:  Hildegard Kehrer-Sawatzki; Victor-Felix Mautner; David N Cooper
Journal:  Hum Genet       Date:  2017-02-17       Impact factor: 4.132

10.  Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.

Authors:  Tanja Mußotter; Lan Kluwe; Josef Högel; Rosa Nguyen; David N Cooper; Victor-Felix Mautner; Hildegard Kehrer-Sawatzki
Journal:  BMC Med Genet       Date:  2012-10-26       Impact factor: 2.103
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