Results 91 to 100 of about 5,083 (170)

Molecular impacts of Meier-Gorlin syndrome mutations on human origin licensing. [PDF]

J Biol Chem
Yang R, Hunker O, Kim J, Bleichert F.
europepmc   +1 more source

A case of Gorlin syndrome like phenotype with multiple infundibulocystic basal cell carcinomas in a moniliform blepharosis arrangement. [PDF]

JAAD Case Rep, 2023
Petrosian D, Reiter P, Rozenberg SS, Petrosian S.   +3 more
europepmc   +1 more source

Revision Anterior Cruciate Ligament Reconstruction in an Adult Twin With Meier-Gorlin Syndrome. [PDF]

Ochsner J
Suri M, Mudiganty S, Sclafani S, Vanegas-Contla D, Godshaw B, Montgomery S.   +5 more
europepmc   +1 more source

PTCH2 is not a strong candidate gene for gorlin syndrome predisposition. [PDF]

Fam Cancer, 2022
Smith MJ, Evans DG.
europepmc   +1 more source

Anesthetic management in a child with Meier-Gorlin syndrome: a case report. [PDF]

BMC Anesthesiol
Gaik C, Kreiss K, Morin A, Toussaint K, Wulf H, Schmitt N.   +5 more
europepmc   +1 more source

Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome. [PDF]

Appl Clin Genet, 2022
Zabnenkova V, Shchagina O, Makienko O, Matyushchenko G, Ryzhkova O.   +4 more
europepmc   +1 more source

Challenging interpretation of low-level PTCH1 mosaicism in patients with clinically diagnosed Gorlin syndrome: a case series and review of the literature. [PDF]

Hered Cancer Clin Pract
Dwarte TM, Alli R, Srinivasa S, Noon F, Perera Kimmantudawage S, Gordon L, Beshay V, Joshua AM, Ruiz Araujo R, Jalilian C, Thomas DM, Smith MJ, Winship I, Ballinger ML, Li M, Tucker KM, Courtney EK.   +16 more
europepmc   +1 more source

Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test. [PDF]

Int J Mol Sci, 2022
Nazarenko MS, Viakhireva IV, Skoblov MY, Soloveva EV, Sleptcov AA, Nazarenko LP.   +5 more
europepmc   +1 more source

Molecular diagnosis of rare biallelic CDC45 gene variants causing Meier-Gorlin syndrome-7 using whole exome sequencing. [PDF]

Hum Genomics
Zhuang J, Huang N, Wang J, Chen C.
europepmc   +1 more source

Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome. [PDF]

JCI Insight, 2022
McQuaid ME, Ahmed K, Tran S, Rousseau J, Shaheen R, Kernohan KD, Yuki KE, Grover P, Dreseris ES, Ahmed S, Dupuis L, Stimec J, Shago M, Al-Hassnan ZN, Tremblay R, Maass PG, Wilson MD, Grunebaum E, Boycott KM, Boisvert FM, Maddirevula S, Faqeih EA, Almanjomi F, Khan ZU, Alkuraya FS, Campeau PM, Kannu P, Campos EI, Wurtele H.   +28 more
europepmc   +1 more source