Results 201 to 210 of about 142,271 (283)

Case Report: A <i>FBN1</i> frameshift-and-nonsense mutation and aortic dissection in Marfan syndrome. [PDF]

Front Cardiovasc Med
Su C, Zeng L, Lu H, Wang Z, Wei M.
europepmc   +1 more source

Twenty years of BRCA1 and BRCA2 molecular analysis at MMCI : current developments for the classification of variants [PDF]

, 2019
Claes, Kathleen, Foretova, L, Hazova, J, Machackova, E, Mikova, M, Navratilova, M, Stahlova Hrabincova, E, Svoboda, M, Trbusek, M, Vasickova, P   +9 more
core   +2 more sources

Genotype–Phenotype Correlations of Li–Fraumeni Syndrome in Japan Children's Cancer Group LFS20 Study Cohort

Cancer Science, EarlyView.
This study investigates genotype–phenotype correlations in Japanese families with germline TP53 pathogenic variants, collected through a nationwide prospective cancer surveillance study (JCCG LFS‐20). Among 41 families analyzed, 36 met criteria for Li–Fraumeni syndrome (LFS), and 5 were classified as attenuated LFS.
Fumito Yamazaki, Yoshiko Nakano, Masashi Sanada, Hiroki Kurahashi, Shunsuke Miyai, Arisa Ueki, Yuko Watanabe, Daisuke Hasegawa, Shuhei Karakawa, Toshifumi Ozaki, Akira Hirasawa, Akiko M. Saito, Eisuke Inoue, Motohiro Kato, Hiroyoshi Hattori   +14 more
wiley   +1 more source

A heterozygous nonsense mutation in the FGB gene (c.1299G > A) causes congenital fibrinogen disorder across four consecutive generations. [PDF]

Thromb J
Chen W, Hu J.
europepmc   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, EarlyView.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Novel nonsense mutation in the TCOF1 gene associated with treacher collins syndrome: A case report. [PDF]

Sci Prog
Cadena-Ullauri S, Tamayo-Trujillo R, Paz-Cruz E, Guevara-Ramírez P, Ruiz-Pozo VA, Cuenca FA, Zambrano AK.   +6 more
europepmc   +1 more source

MAP1B Variants Disrupt Neuronal Migration: Insights From Three Novel Families

Clinical Genetics, EarlyView.
Pathogenic variants in MAP1B have recently emerged as a cause of neurodevelopmental disorders characterized by intellectual disability, epilepsy, and cortical malformations, including periventricular nodular heterotopia (PVNH) and polymicrogyria (PMG).
Jessica Archer, Matt Edwards, Thomas Macdougall, Anne Baxter, Himanshu Goel   +4 more
wiley   +1 more source

Marked improvement in severe pulmonary arterial hypertension following airway infection in a patient with a heterozygous BMP9 nonsense mutation: a case report. [PDF]

Eur Heart J Case Rep
Sakurai M, Yamaguchi Y, Takasawa K, Hosokawa S, Ishii T.   +4 more
europepmc   +1 more source

Identification of BCL2L11 as a Candidate Gene for Hereditary Predisposition to Non‐Medullary Thyroid Cancer Using Familial Whole‐Exome‐Sequencing

Clinical Genetics, EarlyView.
Whole‐exome sequencing of five families with non‐medullary thyroid cancer revealed three candidate genes. Functional analyses confirmed BCL2L11 as a strong candidate gene for hereditary predisposition to non‐medullary thyroid cancer. ABSTRACT Familial non‐medullary thyroid cancer, defined as two or more affected first‐degree relatives, accounts for 3 ...
Duygu Abbasoglu, Mathis Lepage, Nicolas Sonnier, Sandrine Viala, Nancy Uhrhammer, Flora Ponelle‐Chachuat, Anne Cayre, Maud Privat, Mathias Cavaillé, Yannick Bidet   +9 more
wiley   +1 more source

A novel nonsense mutation in <i>SCAF4</i> associated with fliedner-zweier syndrome: a case report and review of the literature. [PDF]

Front Genet
Chen Z, Zhao J, Fan X, Xuan X, Zhao X.
europepmc   +1 more source