Results 121 to 130 of about 30,899,280 (234)

Arterial hypoplasia in neurofibromatosis 1

, 2007
We describe the case of a 14-year-old boy with neurofibromatosis 1, associated with multiple abnormalities on the right side, namely hypoplasia of both limbs with long bone malformations, hypoplasia of the iliac, femoral and popliteal arteries without ...
A. Costantini, A. Selicorni, L. Menegazzo, L.N. Rossi, E. Fossali   +4 more
core   +2 more sources

Caracterización epidemiológica, clínica y genética de la Neurofibromatosis 1 en la provincia Pinar del Río

, 2017
Con el objetivo de caracterizar la Neurofibromatosis 1 (NF1) se realizó un estudio analítico y transversal en Pinar del Río, desde 2004 hasta 2007.
Orraca Castillo, Miladys
core  

In Reply: Type 1 Neurofibromatosis Gene: Correction [PDF]

Science, 1990
M. R. Wallace, D. A. Marchuk, L. B. Andersen, F. S. Collins   +3 more
openaire   +2 more sources

Neurofibromatosis-1

, 1989
Optic atrophy and hypoplasia of the optic disc associated with chiasmal glioma in a patient with NF-1. Anatomy: Optic disc. Pathology: Chiasmal glioma; Optic atrophy; Hypoplasia. Disease/Diagnosis: Neurofibromatosis type 1.
William F. Hoyt, MD
core  

Hypopituitarism Associated with Neurofibromatosis Type 1: Report of One Case

, 2009
Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder with a wide range of clinical manifestations. Hydrocephalus unrelated to brain tumors is rare in neurofibromatosis type 1.
王崇怡;楊千立;朱麗雯;蔡文友, WANG, CHUNG-YI;YOUNG, CHAINLLIE;CHU, LI-WEN;TSAI, WEN-YU   +1 more
core  

Endocrinological Evaluations of a Neurofibromatosis Type 1 Cohort: Is it Necessary to Evaluate Autoimmune Thyroiditis in Neurofibromatosis Type 1?

, 2017
Background: Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder in which the coexistence of autoimmune thyroiditis and thyroid gland tumours has been reported previously.
Hasan Önal, Serhat Güler, Gözde Yeşil   +2 more
core   +1 more source

Unraveling Gene Interactions in Patients with Neurofibromatosis Type 1 [PDF]

The Journal of Pediatrics, 2015
Beth A, Pletcher, Caroline, Hayes-Rosen
openaire   +2 more sources

Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review

BMC Medical Genomics
About 5–10% of neurofibromatosis type 1 (NF1) patients exhibit large genomic germline deletions that remove the NF1 gene and its flanking regions. The most frequent NF1 large deletion is 1.4 Mb, resulting from homologous recombination between two low ...
Laurence Pacot, Milind Girish, Samantha Knight, Gill Spurlock, Vinod Varghese, Manuela Ye, Nick Thomas, Eric Pasmant, Meena Upadhyaya   +8 more
doaj   +1 more source

Neurofibromatosis type 1 association with moyamoya disease

, 2008
PubMedID: 18576213The neurofibromatoses are genetic disorders of the nervous system that primarily affect the development and growth of neural (nerve) cell tissues.
Koc Z., Yerdelen D., Koç F.
core   +1 more source

PERADIGM: Phenotype embedding similarity-based rare disease gene mapping.

PLoS Genetics
Identifying genes associated with rare diseases remains challenging due to the scarcity of patients and the limited statistical power of traditional association methods. Here, we introduce PERADIGM ( Phenotype Embedding similarity-based RAre DIsease Gene
Wangjie Zheng, Yuhan Xie, Jianlei Gu, Hongyu Li, Stefan Somlo, Whitney Besse, Hongyu Zhao   +6 more
doaj   +1 more source