Results 101 to 110 of about 36,792 (224)

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

Rare uro-genital manifestations of von Recklinghausen disease: Scrotal, penile, and intrapelvic involvement with bladder and spermatic cord extension: A case report

Radiology Case Reports
Neurofibromatosis is a group of genetic disorders comprising 2 main types: type 1 neurofibromatosis (NF-1) and type 2 neurofibromatosis. The most common form is NF-1, also known as Von Recklinghausen disease.
Nadia El Mahi, Amal Mojahid, Hajar Siouri, Hamid Ziani, Siham Nasri, Imane Kamaoui, Imane Skiker   +6 more
doaj   +1 more source

Optical coherence tomography significance in managing complex neurofibromatosis 2-related papilledema: Report of a case. [PDF]

JRSM Open, 2021
Maria Bacci G, Giordano F, Sardi I, Evans G, Pathmanaban O, Fonte C, Trabalzini F, Nappini S, Mura R, Caputo R.   +9 more
europepmc   +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

Two Familial Neurofibromatosis Cases With Different Phenomenic Characteristics

Türk Nöroloji Dergisi, 2008
Scientific BACKGROUND: Neurofibromatosis is an autosomal dominant genetic disease which affects skin, nervous system and eyes. Neurofibromatosis has two frequently seen subtypes which are called Type 1 (Von Recklinghausen disease: periferal ...
Ülgen Kökeş, Fazilet Hız, Suna Özlem Mutlu, Deniz Yücel, Meral Çınar   +4 more
doaj  

Molecular profile of atypical Leydig cell tumours

Histopathology, Volume 88, Issue 3, Page 628-635, February 2026.
Copy number variations by themselves are not sufficient to discriminate between benign and potential malignant Leydig cell tumours (LCTs). Genomic instability was only detected in malignant and atypical cases, and not in any benign tumours. Currently, the presence of metastasis remains the only malignant criterion for LCTs.
Muhammad F.K. Choudhry, Diogo Caires, Yaser Gamallat, Asli Yilmaz, Fadi Brimo, Bob Argiropoulos, Tarek A. Bismar   +6 more
wiley   +1 more source

P16.34 * BEVACIZUMAB TREATMENT FOR ACOUSTIC NEURINOMA IN NEUROFIBROMATOSIS TYPE 2: A CASE REPORT [PDF]

, 2014
Andrea Pietro Sponghini, David Rondonotti, Francesca Platini, M. Giavarra, Elisa Trevisan, Riccardo Soffietti   +5 more
openalex   +1 more source

Simultaneous vestibular, orbital, meningeal and medullary involvement in a patient diagnosed with neurofibromatosis type 2 [PDF]

, 2022
V Ndayishimiye, Belgadir Hasnaa, Achta AF, A Bamba, Aïcha Merzem, O Amriss, Nadia Moussali, El Benna N.   +7 more
openalex   +1 more source

Healthcare Utilisation and Barriers and Facilitators of Healthcare Access for Young People With Intellectual Disability: A Systematic Review

Journal of Intellectual Disability Research, Volume 70, Issue 2, Page 130-161, February 2026.
ABSTRACT Background Young people with intellectual disability may exhibit poorer general health, higher mortality rates and greater limitations from physical or mental illnesses compared to the general population. It is important to understand how this may relate to healthcare utilisation, including factors influencing healthcare access for young ...
Felicia Kreps, Shalini Wijekulasuriya, Yvonne Zurynski, Rebecca Mitchell   +3 more
wiley   +1 more source

Cochlear implant in type 2 neurofibromatosis: an option for better hearing rehabilitation Implante coclear em neurofibromatose tipo 2: uma opção para melhor reabilitação auditiva

Brazilian Journal of Otorhinolaryngology, 2011
Oswaldo Laércio M Cruz, Eduardo A. S Vellutini   +1 more
doaj   +1 more source