Results 71 to 80 of about 30,899,280 (234)

Supplementary Tables 1-4 from Microarray-Based Identification of Tenascin C and Tenascin XB, Genes Possibly Involved in Tumorigenesis Associated with Neurofibromatosis Type 1

, 2007
Supplementary Tables 1-4 from Microarray-Based Identification of Tenascin C and Tenascin XB, Genes Possibly Involved in Tumorigenesis Associated with Neurofibromatosis Type
Janine Wechsler (14975875), Pierre Wolkenstein (582843), Béatrice Parfait (14975872), Karen Leroy (111829), Michel Vidaud (188105), Nicolas Ortonne (1386645), Philippe Dessen (17293), Pascale Lévy (14975869), Isabelle Salmon (33964), Ivan Bièche (3898000), Hugues Ripoche (60057), Vladimir Lazar (60054), Dominique Vidaud (3434459), Ingrid Laurendeau (3434453)   +13 more
core   +1 more source

Learning disability and oligodendrocyte myelin glycoprotein (OMGP) gene in neurofibromatosis type 1

The Turkish Journal of Pediatrics, 2011
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease where phenotypic heterogeneity is explained by the effect of modifier genes. Thirty to 65% of patients have learning disability.
Yunus Kasim Terzi, Sibel Oğuzkan-Balci, Banu Anlar, Emel Erdoğan-Bakar, Sükriye Ayter   +4 more
doaj  

Structural and functional peculiarities of spine deformity development in neurofibromatosis NF-1

Бюллетень сибирской медицины, 2010
To study pathogenetic mechanisms of the development of spinal deformity in neurofibromatosis.Structural components of the spine were presented as specimens obtained after surgical correction of spinal deformity performed in 10 children with III—IV grade ...
A. M. Zaidman, M. V. Mikhailovsky, Ye. L. Zaviyalova, V. A. Suzdalov, M. A. Sadovoy   +4 more
doaj   +1 more source

Genetic Spectrum of Non‐PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort

Clinical Genetics, EarlyView.
Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova, Olga Shatokhina, Daria Guseva, Nina Demina, Aleksander Polyakov, Oхana Ryzkova   +5 more
wiley   +1 more source

Procesos Cognitivos en la Neurofibromatosis tipo 1

, 2019
El presente artículo tiene como objetivo identificar los factores cognitivos que inciden en la neurofibromatosis tipo 1, con el fin de establecer las características e incidencias cognitivas en los niños con dicha enfermedad, para ello se recurrió a una ...
Vargas Quimbayo, Gladys Melisa del Rosario, Garcés Ordoñez, Ingrid Lisset   +1 more
core  

Supplementary Figures 1-3 from Microarray-Based Identification of Tenascin C and Tenascin XB, Genes Possibly Involved in Tumorigenesis Associated with Neurofibromatosis Type 1

, 2007
Supplementary Figures 1-3 from Microarray-Based Identification of Tenascin C and Tenascin XB, Genes Possibly Involved in Tumorigenesis Associated with Neurofibromatosis Type
Janine Wechsler (14975875), Pierre Wolkenstein (582843), Béatrice Parfait (14975872), Karen Leroy (111829), Michel Vidaud (188105), Nicolas Ortonne (1386645), Philippe Dessen (17293), Pascale Lévy (14975869), Isabelle Salmon (33964), Ivan Bièche (3898000), Hugues Ripoche (60057), Vladimir Lazar (60054), Dominique Vidaud (3434459), Ingrid Laurendeau (3434453)   +13 more
core   +1 more source

Walsh & Hoyt: Neurofibromatosis

, 2005
Clinical and genetic studies had for some time suggested two forms of neurofibromatosis. In 1988, a panel of specialists adopted a classification of the two types. The genes for each form were subsequently cloned. Neurofibromatosis type 1 (NF1), the most
John Kerrison, MD
core   +1 more source

Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children

Developmental Medicine &Child Neurology, EarlyView.
In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng, Bahda Hoang, Meaghan Rubsam, Gabriela Lopez, Megan K. O'Brien, Theresa Sukal‐Moulton, Barbara Sargent, Colleen Peyton, Elizabeth Hoffman, Samuel Carey, Nicole Pouppirt, Raye‐Ann de Regnier, John A. Rogers, Richard L. Lieber, Arun Jayaraman   +14 more
wiley   +1 more source

Severe Untreated Scoliosis and Early Onset Breast Cancer in a Patient with Neurofibromatosis Associated with a Nonsense Variant of NF1 Gene

Orthopedic Research and Reviews, 2023
Vivian Reinhold,1 Antti Saarinen,2 Eetu Suominen,2 Stina Syrjänen,3,4 Minna Kankuri-Tammilehto1,5 1Institute of Biomedicine, University of Turku, Turku, Finland; 2Department of Paediatric Orthopaedic Surgery, University of Turku and Turku University ...
Reinhold V, Saarinen A, Suominen E, Syrjänen S, Kankuri-Tammilehto M   +4 more
doaj  

Accelerated long‐term forgetting in children with neurofibromatosis type 1

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To investigate the presence of accelerated long‐term forgetting after a 7‐day delay in children with neurofibromatosis type 1 (NF1), using an adapted verbal memory recall task, Experimental Word Recall Task (EWRT), and to examine its relationship with other cognitive abilities.
Jessica Habib, Melanie Porter, Jonathan M Payne, Shelley Arnold, Kristina M Haebich, Dinberu Shebeshi, Suncica Lah, Michael Gascoigne, Natalie A Pride   +8 more
wiley   +1 more source