Results 141 to 150 of about 16,386 (154)

Neurofibromatosis Type 1: Genetic Mechanisms and Advances in Therapeutic Innovation. [PDF]

Cancers (Basel)
Lu Y, Xu M, Chen X, Xu H, Sun N, Weisgerber KE, Bai RY.   +6 more
europepmc   +1 more source

GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders. [PDF]

Am J Hum Genet
Rekerle L, Danis D, Rehburg F, Graefe ASL, Bily V, Caballero-Oteyza A, Cacheiro P, Chimirri L, Chong JX, Connelly E, de Vries BBA, Dingemans AJM, Duyzend MH, Freiberger T, Gehle P, Groza T, Hansen P, Jacobsen JOB, Klocperk A, Ladewig MS, Love MI, Marcello AJ, Mordhorst A, Munoz-Torres MC, Reese J, Schuetz C, Smedley D, Strauss T, Vladyka O, Zocche D, Thun S, Mungall CJ, Haendel MA, Robinson PN.   +33 more
europepmc   +1 more source

Genetic tumor syndromes in female cancer: insights into inherited cancer predisposition and clinical implications. [PDF]

Arch Gynecol Obstet
Krückel A, Gocke J, Hörner M, Keller K, Müller C, Brückner L, Heindl F, Hack CC, Beckmann MW, Amann N.   +9 more
europepmc   +1 more source

Epigenetic Mechanisms in Neurofibromatosis Types 1 and 2. [PDF]

Epigenomes
Stylianides C, Hadjigavriel G, Theotokis P, Vakirlis E, Meditskou S, Manthou ME, Dermitzakis I.   +6 more
europepmc   +1 more source

Whole-Exome Sequencing Identifies Novel Genetic Variants Associated with Unexplained Neurodevelopmental Disorders in Children. [PDF]

Int J Mol Sci
Mancuso G, Serventi L, Cocco C, Lai F, Soddu C, Marica M, Mereu C, Lorrai M, Tosone GM, Cannas F, Nutile G, Floris M, Savasta S, Giglio S.   +13 more
europepmc   +1 more source

Caffeine May Delay the Radiation-Induced Nucleoshuttling of the ATM Kinase and Reduce the Recognition of the DNA Double-Strand Breaks in Human Cells. [PDF]

Biomolecules
Moliard L, Restier-Verlet J, Al-Choboq J, Granzotto A, Charlet L, Balosso J, Bourguignon M, Pujo-Menjouet L, Foray N.   +8 more
europepmc   +1 more source

Genetic Landscape of a Pleural Mesothelioma in a Child Affected by NF2-Related Schwannomatosis. [PDF]

Int J Mol Sci
Ognibene M, Piccolo G, Crocco M, Di Duca M, Verrico A, Molteni M, Romano F, Capra V, Rossi A, Zara F, De Marco P, Milanaccio C.   +11 more
europepmc   +1 more source

Case Report: Phenotypic heterogeneity within an NF1 family: assessment of the pathogenicity of a <i>de novo</i> c.6640dupA shift mutation and a splice variant with an epilepsy phenotype. [PDF]

Front Neurosci
Ren S, Wang Y, Tong X, Wu X, Yan H, Kong QX.   +5 more
europepmc   +1 more source