Results 121 to 130 of about 1,786 (148)

Café-Au-Lait Macules in Neurofibromatosis Type 1: Birthmark or Biomarker? [PDF]

Cancers (Basel)
Santangelo A, Chelleri C, Tomasino M, Pasquinucci M, Cappozzo F, Striano P, Diana MC, Scala M.   +7 more
europepmc   +1 more source

Cancer predisposition syndromes: an imaging review. [PDF]

Cancer Imaging
Mertiri L, Tran HB, Mertiri D, Lequin M, Desai NK, Huisman TAGM.   +5 more
europepmc   +1 more source

Accounting for Biological Sex and Gender Identity in the Pathogenesis, Artistic Depictions, and Quality of Life in Neurofibromatosis Type 1. [PDF]

JID Innov
Kuchimanchi N, McKay RM, Le LQ.
europepmc   +1 more source

Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants. [PDF]

Mol Syndromol
Ates K, Ozturk M, Esener Z, Dogan M, Gezdirici A, Sarac H, Yeninarcilar B, Fettahlioglu A, Camtosun E, Dundar I, Güngör S, Ozgor B, Tekedereli I.   +12 more
europepmc   +1 more source

Painful pink papules and nodules presenting in a Blaskoid distribution. [PDF]

JAAD Case Rep
Hauptman M, Nakamura M, Goldfarb M.
europepmc   +1 more source

(Not) "just your nature". Diagnostic journeys of adults with neurofibromatosis type 1 in Poland. [PDF]

Front Genet
Kowal K, Domaradzki J.
europepmc   +1 more source

Reassessment of variants of uncertain significance in tumor suppressor genes using new ClinGen PP1/PP4 criteria guidance. [PDF]

Eur J Hum Genet
Kim YG, Ha C, Jang JH, Jang MA, Kim JW.
europepmc   +1 more source

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Nodules de Lisch dans la neurofibromatose de type 1

Journal Français d'Ophtalmologie, 2020
S. Haddar, A. Mahjoub, N. Ben Abdesslem, S. Ben Mrad, L. Knani, H. Mahjoub   +5 more
openaire   +3 more sources

Maladie de Cushing et nodules de Lisch : une association rarement décrite

Annales d'Endocrinologie, 2015
Diagnostic d’une maladie de Cushing chez une patiente de 46 ans devant une HTA recente, un hirsutisme et l’aggravation d’une obesite androide : cycle du cortisol et de l’ACTH rompu, freinage faible minute positif, freinage fort negatif mais image hypophysaire infra-centimetrique d’allure kystique et catheterisme des sinus petreux en faveur d’une ...
M. Richou, A.M. Guedj, L. Jeanjean, M. Rodier   +3 more
openaire   +1 more source

Segmental neurofibromatosis with Lisch nodules

Medical Journal Armed Forces India, 2023
Murali Narasimhan
exaly