Results 121 to 130 of about 38,110 (241)

Disrupted Frontoparietal Dynamics in Neurofibromatosis Type 1: Reduced Sensitivity and Atypical Modulation During Working Memory

Human Brain Mapping, Volume 47, Issue 2, February 1, 2026.
Dynamic causal modelling of working memory fMRI in individuals with Neurofibromatosis Type 1 (NF1) revealed altered frontoparietal connectivity. NF1 participants showed increased endogenous self‐connectivity in left dlPFC and IPG. During working memory, NF1 participants showed increased self‐connectivity in left vlPFC but decreased self‐connectivity in
Marta C. Litwińczuk, Shruti Garg, Caroline Lea‐Carnall, Nelson J. Trujillo‐Barreto   +3 more
wiley   +1 more source

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations

The Journal of Dermatology, Volume 53, Issue 2, Page 169-179, February 2026.
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley   +1 more source

Minimal intervention for neurofibromatosis type I manifestations: A case report. [PDF]

Int J Surg Case Rep, 2023
Saad RH, Medra AM, Saadallah OA, El Mallah MM.   +3 more
europepmc   +1 more source

Orthognathic Surgical Outcomes in Patients With and Without Craniofacial Anomalies [PDF]

, 2018
Purpose The objective of this study is to examine hospitalization outcomes after orthognathic surgery. This study tests the hypothesis that patients with craniofacial anomalies have higher billed hospital charges, longer lengths of stay, and increased ...
Allareddy, Veerasathpurush, Fletcher, Steven, Metalwala, Zohra, Okunseri, Christopher   +3 more
core   +1 more source

Genetic Landscape of Robin Sequence: A Systematic Review

Clinical Genetics, Volume 109, Issue 2, Page 218-232, February 2026.
This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde, Aebele B. Mink van der Molen, Augusta M. A. Lachmeijer, Daan de Leijer, Jeroen J. Smits, Maarten P. G. Massink, Sarah L. Versnel, Marie‐José H. van den Boogaard, Emma C. Paes   +8 more
wiley   +1 more source

Neurological diagnoses in children potentially fulfilling the criteria for developmental coordination disorder

Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 251-262, February 2026.
In children potentially fulfilling the criteria for developmental coordination disorder (DCD), phenotypical assessment does not sufficiently predict the diagnostic outcome (i.e. DCD or an alternative diagnosis). Due to the lack of distinguishing clinical and diagnostic features and the high prevalence of genetic diagnoses in these patients, additional ...
Martinica Garofalo, Fleur Vansenne, Jessika F. van Hoorn, Marina A. J. Tijssen, Dineke S. Verbeek, Deborah A. Sival   +5 more
wiley   +1 more source

RECKLINGHAUSEN'S DISEASE IN А PREGNANT WOMAN: A CLINICAL CASE

Мать и дитя в Кузбассе
Recklinghausen's disease (neurofibromatosis) was first described in 1882. Neurofibromatosis (non-malignant) is classified as a phacomatosis according to the International Classification of Diseases X revision (Q85.0) and is included in the list of orphan
Владимир Кириллович Чайка, Ирина Тихоновна Говоруха, Виталина Васильевна Вустенко, Арина Александровна Земелько   +3 more
doaj  

Updated nomenclature for human and mouse neurofibromatosis type 1 genes [PDF]

, 2017
Anastasaki, Corina, Gutmann, David H, Kesterson, Robert A, Le, Lu Q   +3 more
core   +2 more sources

The PERISCOPE Cohort: A Retrospective Study of Clinicopathological and TRAF7 Genetic Findings in Intraneural Perineurioma

European Journal of Neurology, Volume 33, Issue 2, February 2026.
ABSTRACT Background Intraneural perineurioma (INP) is a rare, benign peripheral nerve sheath tumour that typically presents in adolescence or early adulthood as a slowly progressive, motor‐predominant mononeuropathy or plexopathy. Although its clinicoradiological and histopathological features are well characterised, the genetic basis remains ...
Eduardo Boiteux Uchôa Cavalcanti, Alessandra de La Rocque Ferreira, Nilo Sakai Júnior, Francineide Sadala de Souza, Heveline Becker de Moura, Eni Braga Da Silveira, Graciela Maria Barbosa Lacerda Martins, Marcio de Mendonça Cardoso   +7 more
wiley   +1 more source

Efficacy of denosumab therapy for neurofibromatosis type I with osteoporosis and history of fractures: a case report

Therapeutics and Clinical Risk Management, 2018
Masashi Uehara,1 Yukio Nakamura,1 Jun Takahashi,1 Mikio Kamimura,2 Fumihiro Isobe,1 Tomomi Yamaguchi,3,4 Tomoki Kosho,3,4 Shigeharu Uchiyama,1,5 Takako Suzuki,1 Hiroyuki Kato1 1Department of Orthopedic Surgery, Shinshu University School of Medicine ...
Uehara M, Nakamura Y, Takahashi J, Kamimura M, Isobe F, Yamaguchi T, Kosho T, Uchiyama S, Suzuki T, Kato H   +9 more
doaj