Results 71 to 80 of about 30,899,307 (191)

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

Síndrome de microdeleción en la neurofibromatosis tipo- 1: presentación de un caso Microdeletion syndrome in neurofibromatosis type-1: a case report

Revista de Ciencias Médicas de Pinar del Río, 2011
La neurofibromatosis tipo 1 es una enfermedad genética neuroectodérmica, en la que han sido descritas diferentes tipos de mutaciones en el gen NF1, cuyo locus está en el cromosoma 17 y en este mapean miles de genes; algunos de ellos se encuentran en ...
Miladys Orraca Castillo, Deysi Licourt Otero, Ana Isabel Sánchez Álvarez de La Campa   +2 more
doaj  

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

Legius syndrome in fourteen families [PDF]

, 2010
Legius syndrome presents as an autosomal dominant condition characterized by café-au-lait macules with or without freckling and sometimes a Noonan-like appearance and/or learning difficulties.
Denayer, E, Oostenbrink, R., Legius, E, Eric Legius, Van Minkelen, R, Lakeman, P, Rick Van Minkelen, Beert, E, Van Spaendonck-Zwarts, KY, Goede-Bolder, A. de, Peltonen, S., Van den Ouweland, AM, Spaendonck-Zwarts, KY, Brice, Glen, Ellen Denayer, Van den Ouweland, Ans Mw, Chmara, Magdalena, Bolder, A, Peltonen, Sirkku, Mori, T., Rankin, J., van den Ouweland, Ans, Peltonen, S, Brice, G., Brice, G, Brems, H, Ouweland, A.M.W. van den, Van den Ouweland, Ans M. W., Rankin, Julia, Bever, Yolande, Brems, Hilde, Spaendonck-Zwarts, K.Y. van, Julia Rankin, Kievit, Anneke Maat, Oostenbrink, Rianne, Eline Beert, Karin Y Van Spaendonck-Zwarts, van Bever, Yolande, Keymolen, K., Anneke Maat Kievit, Kievit, A.M., Mangold, Elisabeth, Yolande van Bever, Lakeman, Phillis, Mori, T, Arja de Goede-Bolder, Ans MW Van den Ouweland, Ende, J. van der, Phillis Lakeman, Beert, E., Legius, E., Sirkku Peltonen, Keymolen, Kathelijn, Magdalena Chmara, van Bever, Y., van der Ende, J., Ishizaki, Takuma, Mangold, E, Yoshimura, Akihiko, Van Minkelen, Rick, Beert, Eline, Keymolen, K, Legius, Eric, van Minkelen, R., Ishizaki, T., Kievit, AM, Glen Brice, Rianne Oostenbrink, van Spaendonck-Zwarts, K.Y., de Goede-Bolder, A, Denayer, Ellen, Akihiko Yoshimura, Chmara, M., Yoshimura, A, Jenneke Van den Ende, van den Ouweland, A.M.W., Denayer, E., Van Spaendonck-Zwarts, Karin Y., Van den Ende, Jenneke, Lakeman, P., Mangold, E., de Goede-Bolder, A., van Bever, Y, Van den Ende, J, Yoshimura, A., de Goede-Bolder, Arja, Elisabeth Mangold, Takuma Ishizaki, Maat-Kievit, Anneke, Bever, Y. van, Oostenbrink, R, Hilde Brems, Maat Kievit, A, Mori, Tomoaki, Tomoaki Mori, Chmara, M, Kathelijn Keymolen, Minkelen, R. van, Rankin, J, Ishizaki, T, De Goede, Arja, Van Spaendonck, Karin Y., Van Minckelen, Rick, et al., Van Den Ouweland, Ans M.W.   +104 more
core   +1 more source

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

Pheochromocytomas and paragangliomas: clinical and genetic approaches

Frontiers in Endocrinology, 2015
Pheochromocytomas (PCCs) and paragangliomas (PGLs) are neuroendocrine tumours derived from the chromafin tissue. Diagnosis of these tumours is extremely important as they are linked to the hypertension syndrome with great cardiovascular morbidity and ...
Marcia Helena Costa, Tania M Ortiga-Carvalho, Alice Dutra Violante, Mario eVaisman   +3 more
doaj   +1 more source

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

Rare complications of neurofibromatosis 1 diagnosed incidentally in two children

, 2018
Cecilia Lazea,1 Carmen Asavoaie,2 Camelia Al-Khzouz,3 Lenuta Popa1 1Department of Pediatrics I, Emergency Clinic Hospital for Children, “Iuliu Hatieganu” University of Medicine and Pharmacy, 2Department of Imaging and Radiology, Emergency ...
Lazea C, Popa L, Al-Khzouz C, Asavoaie C
core  

Becker′s nevus with neurofibromatosis type 1

, 2015
Neurofibromatosis type 1 is an autosomal dominant disorder which primarily affects the growth and development of neural cell tissues. It presents as multiple tumor-like growths over the skin that arises from the nerves and is associated with other ...
Bhushan Madke, Nitin Gangane, Nidhi Yadav, Sumit Kar, Krishnan Preetha   +4 more
core   +1 more source

Isolated Pheochromocytoma in a 73-Year-Old Man With No Clinical Manifestations of Type 1 Neurofibromatosis Carrying an Unsuspected Deletion of the Entire NF1 Gene

Frontiers in Endocrinology, 2019
Pheochromocytomas (PHEOs) are a rare cause of endocrine hypertension that requires genetic counseling since at least 30% of PHEOs are associated with a germline mutation in a susceptibility gene.
Stefanie Parisien-La Salle, Nadine Dumas, Geneviève Rondeau, Mathieu Latour, Isabelle Bourdeau   +4 more
doaj   +1 more source