Results 101 to 110 of about 3,674 (207)

[Lisch nodules: an ophthalmic marker of neurofibromatosis type 1]. [PDF]

Pan Afr Med J, 2022
Bouirig K, Cherkaoui LO.
europepmc   +1 more source

MULTIPLE NEUROENDOCRINE NEOPLASIA IN A PATIENT WITH TYPE I NEUROFIBROMATOSIS (NF1): REPORT OF A NEW MUTATION (NF1, EXONS 2-30 DELETION) AND LITERATURE REVIEW. [PDF]

Arq Bras Cir Dig, 2023
Kanno DT, Mattos RLM, Campos FG, Siqueira RM, Carvalho RB, Real Martinez CA.   +5 more
europepmc   +1 more source

Etiologic Evaluation and Investigation of Global Development Delay and Intellectual Disability [PDF]

, 2012
Developmental Delay (DD) and Intellectual Disability (ID), depending on the affected individual being under or above five years-old, result from environmental or genetic causes during the developmental period, that manifest as a subnormal functioning ...
Fernandes, B, Oliveira, R, Rodrigues, F, Saraiva, JM, Venâncio, M   +4 more
core  

[An unusual cause of tarsal tunnel syndrome in a 15-year-old girl: about a case]. [PDF]

Pan Afr Med J, 2022
Abdelkrim EH, Douma H, Barchah O, Elkasseh M, Boumaiz A, Belkyal S, Haoury HE, Madhar M, Chafik R, Najeb Y.   +9 more
europepmc   +1 more source

Le gradient entre la pression pulmonaire artérielle diastolique et la pression pulmonaire d'occlusion est important dans l'évaluation des hypertensions pulmonaires post- capillaires [PDF]

, 2012
Les hypertensions pulmonaires post-capillaires sont définies par une pression artérielle moyenne (PAPm) ≥ 25mmHg et une pression pulmonaire d'occlusion (PAPO) > 15mmHg.
Stettler, S.
core  

Toward an Early Diagnosis for Alzheimer's Disease Based on the Perinuclear Localization of the ATM Protein. [PDF]

Cells, 2023
Berthel E, Pujo-Menjouet L, Le Reun E, Sonzogni L, Al-Choboq J, Chekroun A, Granzotto A, Devic C, Ferlazzo ML, Pereira S, Bourguignon M, Foray N.   +11 more
europepmc   +1 more source

Kindlicher ischämischer Schlaganfall: Wann daran denken? Was unternehmen? [PDF]

, 2018
Zusammenfassung: Der kindliche Schlaganfall ist ein seltenes, aber einschneidendes Ereignis. Das Leitsymptom im Notfall ist in 70-80% eine Hemisymptomatik, wobei die Symptome je nach Lokalisation des Infarkts mannigfaltig sein können.
Steinlin, M.
core  

Wachstumsstörungen als Leitsymptom [PDF]

, 2018
Zusammenfassung: Kleinwuchs als Leitsymptom stellt eine häufige Fragestellung sowohl in der humangenetischen als auch in der pädiatrischen Sprechstunde dar. Definiert ist Kleinwuchs als eine Körperhöhe unter der 3.Perzentile der Norm bzw.
Rauch, A., Thiel, C.
core  

[Long-Term Pulmonary Function after Combined Anteroposterior Spinal Fusion for Scoliosis in Neurofibromatosis Type 1 and Marfan Syndrome at a Mean Follow-Up of 13 Years]. [PDF]

Rev Bras Ortop (Sao Paulo)
Oliveira JAA, Visconti RDR, Azevedo GBL, Barros AGC, Carelli LE, Silva JRLE.   +5 more
europepmc   +2 more sources

Characteristics of patients with neurofibromatosis and patient and caregiver perspectives on the impact of the disease and its clinical management in Spain and Portugal

Journal of Rare Diseases
Background Neurofibromatosis (NF) is a genetic disorder of the nervous system that causes the growth of tumours on nerve tissues. There are three main types of NF: NF1, NF2-related schwannomatosis, and non-NF2-related schwannomatosis, each associated ...
Joan Lluis Vinent, Joao Passos, Aitana Aguilera, Ana Elisabete Pires, Laura Benedito-Palos, Laura Gutiérrez, Anna Ribera, Ignacio Blanco   +7 more
doaj   +1 more source