Results 111 to 120 of about 108,120,995 (240)

Neurofibromatosis Tipe-1 / Von Recklinghausen Disease: Sebuah Laporan Kasus [PDF]

, 2017
Neurofibromatosis adalah salah satu penyakit genetik yang paling sering diturunkan, bersifat autosomal dominan dan dapat mengenai multiorgan. Neurofibromatosis tipe 1 (NF-1) atau dikenal juga dengan penyakit Von Recklinghausen merupakan jenis ...
Wijaya, Wong Hendra, Wijaya, Jonathan Kurnia   +1 more
core   +1 more source

Building a precision therapeutics program at a tertiary care children's hospital

Pediatric Investigation, EarlyView.
Luke Hamilton, Heidi Trinkman, Diana Carrasco, Kaitlin Smith, Kelly Vallance, Alejandra Dominguez, Danielle Miller, Megan Gibbs, Anish Ray   +8 more
wiley   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2454-2463, November 2026.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

Pruritus in neurofibromatosis type 1

, 2018
Pruritus in neurofibromatosis type
Calvieri, Stefano, Miraglia, Emanuele, Giustini, Sandra, Stefano Calvieri, Sandra Giustini, Emanuele Miraglia   +5 more
core   +1 more source

Whole-exome sequencing reveals the genetic causes and modifiers of moyamoya syndrome

Scientific Reports
Moyamoya vasculopathy secondary to various genetic disorders is classified as moyamoya syndrome (MMS). Recent studies indicate MMS occurs due to a combination of genetic modifiers and causative mutations for the primary genetic disorders.
Akikazu Nakamura, Shunsuke Nomura, Shoko Hara, Thiparpa Thamamongood, Taketoshi Maehara, Tadashi Nariai, Shasha Khairullah, Kay Sin Tan, Kenko Azuma, Ayako Chida‐Nagai, Yoshiyuki Furutani, Takahiro Hori, Koji Yamaguchi, Takakazu Kawamata, Constantin Roder, Hiroyuki Akagawa   +15 more
doaj   +1 more source

RAS diseases in children

Haematologica, 2014
RAS genes encode a family of 21 kDa proteins that are an essential hub for a number of survival, proliferation, differentiation and senescence pathways. Signaling of the RAS-GTPases through the RAF-MEK-ERK pathway, the first identified mitogen-associated
Charlotte M. Niemeyer
doaj   +1 more source

Two rare tumors, one patient: The first report of bilateral mixed corticomedullary tumors of the adrenal gland

UroPrecision, EarlyView.
Reza Kaffash Nayeri, Farshad Banouei, Tina Darehzari, Benyamin Mohammadi   +3 more
wiley   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2443-2453, November 2026.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 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  

Late-Onset Glioma with Neurofibromatosis Type 1

, 2002
The frequency of symptomatic nonoptic pathway brain tumors in adolescents and adults known to have neurofibromatosis type 1 (NF1) was determined from the National Neurofibromatosis Foundation International Database (NNFFID) in a study at Washington ...
J Gordon Millichap, Millichap, J. Gordon
core   +1 more source