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Literature DB >> 25966637

Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.

Claudia Santoro¹, Anna Maietta¹, Teresa Giugliano², Daniela Melis³, Silverio Perrotta¹, Vincenzo Nigro^2,4, Giulio Piluso².

Abstract

Entities: Chemical

Mesh：

Substances：
Neurofibromin 1

Year: 2015 PMID： 25966637 PMCID： PMC4613473 DOI： 10.1038/ejhg.2015.93

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

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14 in total

1. Molecular diagnosis of neurofibromatosis type 1: 2 years experience.

Authors: Siân Griffiths; Peter Thompson; Ian Frayling; Meena Upadhyaya
Journal: Fam Cancer Date: 2007 Impact factor: 2.375

2. A novel bipartite phospholipid-binding module in the neurofibromatosis type 1 protein.

Authors: Igor D'Angelo; Stefan Welti; Fabien Bonneau; Klaus Scheffzek
Journal: EMBO Rep Date: 2006-02 Impact factor: 8.807

3. Assessment of executive function and attention in children with neurofibromatosis type 1: relationships between cognitive measures and real-world behavior.

Authors: Jonathan M Payne; Shelley L Hyman; E Arthur Shores; Kathryn N North
Journal: Child Neuropsychol Date: 2011 Impact factor: 2.500

4. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.

Authors: R M Cawthon; R Weiss; G F Xu; D Viskochil; M Culver; J Stevens; M Robertson; D Dunn; R Gesteland; P O'Connell
Journal: Cell Date: 1990-07-13 Impact factor: 41.582

5. NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.

Authors: Eric Pasmant; Audrey Sabbagh; Gill Spurlock; Ingrid Laurendeau; Elisa Grillo; Marie-José Hamel; Ludovic Martin; Sébastien Barbarot; Bruno Leheup; Diana Rodriguez; Didier Lacombe; Hélène Dollfus; Laurent Pasquier; Bertrand Isidor; Salah Ferkal; Jean Soulier; Marc Sanson; Anne Dieux-Coeslier; Ivan Bièche; Béatrice Parfait; Michel Vidaud; Pierre Wolkenstein; Meena Upadhyaya; Dominique Vidaud
Journal: Hum Mutat Date: 2010-06 Impact factor: 4.878

6. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.

Authors: M Upadhyaya; S M Huson; M Davies; N Thomas; N Chuzhanova; S Giovannini; D G Evans; E Howard; B Kerr; S Griffiths; C Consoli; L Side; D Adams; M Pierpont; R Hachen; A Barnicoat; H Li; P Wallace; J P Van Biervliet; D Stevenson; D Viskochil; D Baralle; E Haan; V Riccardi; P Turnpenny; C Lazaro; L Messiaen
Journal: Am J Hum Genet Date: 2006-12-08 Impact factor: 11.025

7. An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.

Authors: D F Easton; M A Ponder; S M Huson; B A Ponder
Journal: Am J Hum Genet Date: 1993-08 Impact factor: 11.025

8. Unusual features in a patient with neurofibromatosis type 1: multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidney.

Authors: Cagatay Oktenli; Davut Gul; M Salih Deveci; Mutlu Saglam; Meena Upadhyaya; Peter Thompson; Claudia Consoli; Ismail H Kocar; Robert Pilarski; Xiao-Ping Zhou; Charis Eng
Journal: Am J Med Genet A Date: 2004-06-15 Impact factor: 2.802

9. Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.

Authors: L M Kayes; W Burke; V M Riccardi; R Bennett; P Ehrlich; A Rubenstein; K Stephens
Journal: Am J Hum Genet Date: 1994-03 Impact factor: 11.025

10. Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.

Authors: Audrey Sabbagh; Eric Pasmant; Ingrid Laurendeau; Béatrice Parfait; Sébastien Barbarot; Bernard Guillot; Patrick Combemale; Salah Ferkal; Michel Vidaud; Patrick Aubourg; Dominique Vidaud; Pierre Wolkenstein
Journal: Hum Mol Genet Date: 2009-05-05 Impact factor: 6.150

12 in total

Review 1. Ras-Specific GTPase-Activating Proteins-Structures, Mechanisms, and Interactions.

Authors: Klaus Scheffzek; Giridhar Shivalingaiah
Journal: Cold Spring Harb Perspect Med Date: 2019-03-01 Impact factor: 6.915

Review 2. Neurofibromin and suppression of tumorigenesis: beyond the GAP.

Authors: Juan Mo; Stefanie L Moye; Renee M McKay; Lu Q Le
Journal: Oncogene Date: 2022-01-23 Impact factor: 8.756

3. 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

4. Von recklinghausen disease: one patient - various problems.

Authors: B Bergler-Czop; B Miziołek; L Brzezińska-Wcisło
Journal: Balkan J Med Genet Date: 2016-08-02 Impact factor: 0.519

5. Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?

Authors: Claudia Santoro; Pia Bernardo; Antonietta Coppola; Umberto Pugliese; Mario Cirillo; Teresa Giugliano; Giulio Piluso; Giuseppe Cinalli; Salvatore Striano; Carmela Bravaccio; Silverio Perrotta
Journal: Ital J Pediatr Date: 2018-03-22 Impact factor: 2.638

6. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Authors: Magdalena Koczkowska; Tom Callens; Alicia Gomes; Angela Sharp; Yunjia Chen; Alesha D Hicks; Arthur S Aylsworth; Amedeo A Azizi; Donald G Basel; Gary Bellus; Lynne M Bird; Maria A Blazo; Leah W Burke; Ashley Cannon; Felicity Collins; Colette DeFilippo; Ellen Denayer; Maria C Digilio; Shelley K Dills; Laura Dosa; Robert S Greenwood; Cristin Griffis; Punita Gupta; Rachel K Hachen; Concepción Hernández-Chico; Sandra Janssens; Kristi J Jones; Justin T Jordan; Peter Kannu; Bruce R Korf; Andrea M Lewis; Robert H Listernick; Fortunato Lonardo; Maurice J Mahoney; Mayra Martinez Ojeda; Marie T McDonald; Carey McDougall; Nancy Mendelsohn; David T Miller; Mari Mori; Rianne Oostenbrink; Sebastién Perreault; Mary Ella Pierpont; Carmelo Piscopo; Dinel A Pond; Linda M Randolph; Katherine A Rauen; Surya Rednam; S Lane Rutledge; Veronica Saletti; G Bradley Schaefer; Elizabeth K Schorry; Daryl A Scott; Andrea Shugar; Elizabeth Siqveland; Lois J Starr; Ashraf Syed; Pamela L Trapane; Nicole J Ullrich; Emily G Wakefield; Laurence E Walsh; Michael F Wangler; Elaine Zackai; Kathleen B M Claes; Katharina Wimmer; Rick van Minkelen; Alessandro De Luca; Yolanda Martin; Eric Legius; Ludwine M Messiaen
Journal: Genet Med Date: 2018-09-07 Impact factor: 8.822

7. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors: Magdalena Koczkowska; Tom Callens; Yunjia Chen; Alicia Gomes; Alesha D Hicks; Angela Sharp; Eric Johns; Kim Armfield Uhas; Linlea Armstrong; Katherine Armstrong Bosanko; Dusica Babovic-Vuksanovic; Laura Baker; Donald G Basel; Mario Bengala; James T Bennett; Chelsea Chambers; Lola K Clarkson; Maurizio Clementi; Fanny M Cortés; Mitch Cunningham; M Daniela D'Agostino; Martin B Delatycki; Maria C Digilio; Laura Dosa; Silvia Esposito; Stephanie Fox; Mary-Louise Freckmann; Christine Fauth; Teresa Giugliano; Sandra Giustini; Allison Goetsch; Yael Goldberg; Robert S Greenwood; Cristin Griffis; Karen W Gripp; Punita Gupta; Eric Haan; Rachel K Hachen; Tamara L Haygarth; Concepción Hernández-Chico; Katelyn Hodge; Robert J Hopkin; Louanne Hudgins; Sandra Janssens; Kory Keller; Geraldine Kelly-Mancuso; Aaina Kochhar; Bruce R Korf; Andrea M Lewis; Jan Liebelt; Angie Lichty; Robert H Listernick; Michael J Lyons; Isabelle Maystadt; Mayra Martinez Ojeda; Carey McDougall; Lesley K McGregor; Daniela Melis; Nancy Mendelsohn; Malgorzata J M Nowaczyk; June Ortenberg; Karin Panzer; John G Pappas; Mary Ella Pierpont; Giulio Piluso; Valentina Pinna; Eniko K Pivnick; Dinel A Pond; Cynthia M Powell; Caleb Rogers; Noa Ruhrman Shahar; S Lane Rutledge; Veronica Saletti; Sarah A Sandaradura; Claudia Santoro; Ulrich A Schatz; Allison Schreiber; Daryl A Scott; Elizabeth A Sellars; Ruth Sheffer; Elizabeth Siqveland; John M Slopis; Rosemarie Smith; Alberto Spalice; David W Stockton; Haley Streff; Amy Theos; Gail E Tomlinson; Grace Tran; Pamela L Trapane; Eva Trevisson; Nicole J Ullrich; Jenneke Van den Ende; Samantha A Schrier Vergano; Stephanie E Wallace; Michael F Wangler; David D Weaver; Kaleb H Yohay; Elaine Zackai; Jonathan Zonana; Vickie Zurcher; Kathleen B M Claes; Marica Eoli; Yolanda Martin; Katharina Wimmer; Alessandro De Luca; Eric Legius; Ludwine M Messiaen
Journal: Hum Mutat Date: 2019-10-26 Impact factor: 4.878

Review 8. Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants.

Authors: Hildegard Kehrer-Sawatzki; David N Cooper
Journal: Hum Genet Date: 2021-12-20 Impact factor: 4.132

Review 9. Cutaneous neurofibromas in the genomics era: current understanding and open questions.

Authors: Robert J Allaway; Sara J C Gosline; Salvatore La Rosa; Pamela Knight; Annette Bakker; Justin Guinney; Lu Q Le
Journal: Br J Cancer Date: 2018-04-26 Impact factor: 7.640

10. Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.

Authors: Nahla N Abdel-Aziz; Ghada Y El-Kamah; Rabab A Khairat; Hanan R Mohamed; Yehia Z Gad; Akmal M El-Ghor; Khalda S Amr
Journal: Mol Genet Genomic Med Date: 2021-06-03 Impact factor: 2.183