Results 71 to 80 of about 14,767 (207)

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  

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, EarlyView.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +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

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

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

Type 1 Neurofibromatosis Gene: Correction [PDF]

Science, 1990
Margaret R. Wallace, Douglas A. Marchuk, Lone B. Andersen, Francis S. Collins   +3 more
openaire   +2 more sources

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

Selumetinib as a Target Therapy in Progressive Paediatric Low‐Grade Gliomas—Case Series (pLGG)

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background Optic pathway gliomas (OPGs) occur in 15%–20% of children with neurofibromatosis type 1 (NF1). While smaller gliomas may be only monitored, the current standard of care for symptomatic ones relies on chemotherapy, most commonly carboplatin and vincristine.
Laura Trapani, Giulia Gortani, Andrea Magnolato, Flora Maria Murru, Elisabetta Cattaruzzi, Laura Diplotti, Paola Michieletto, Silvia Giganti, Davide Zanon, Alessandra Maestro, Valentina Kiren, Egidio Barbi, Irene Bruno   +12 more
wiley   +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

Case report of ascending colon cancer and multiple jejunal GISTs in a patient with neurofibromatosis type 1 (NF1)

BMC Cancer, 2019
Background NF1(Neurofibromatosis type 1) is an autosomal dominant genetic disorder. Patients with NF1 have an increased risk of developing benign or malignant tumours, such as gastrointestinal stromal tumours (GISTs).
Liang Shang, Zhen Fang, Jin Liu, Fengying Du, Haiyan Jing, Yali Xu, Kangdi Dong, Xiaoman Zhang, Hao Wu, Changqing Jing, Leping Li   +10 more
doaj   +1 more source