Results 291 to 300 of about 1,702,970 (343)

Leveraging paired germline and somatic analysis to improve the classification of DDX41 variants

British Journal of Haematology, EarlyView.
Summary Constitutional pathogenic variants in DDX41 predispose to myelodysplasia and acute myeloid leukaemia. Acquisition of subsequent somatic hits in the second allele is frequent, with notable recurrent variants at key hotspots. Sequencing of Deoxyribonucleic acid from blood/marrow of 239 patients with suspected/confirmed haematological malignancies
Andrew George, Elisabeth Rolf, Monika Domeradzka, Sara Ribeiro, Brittany Mills, April Hallett, Suzanne Macmahon, Paula Proszek, Ridwan Shaikh, Lina Yuan, Michael Hubank, Mikel Valganon Petrizan, Terri P. McVeigh, Jamshid S. Khorashad   +13 more
wiley   +1 more source

Pre-gestational diabetes in a young woman with a pathogenic INSR missense mutation, p.(Met1180Lys). [PDF]

Endocrinol Diabetes Metab Case Rep
Prehn EL, Crowley M, Fennell D, Kinsley BT, Colclough K, Byrne MM.   +5 more
europepmc   +1 more source

Compound heterozygosity of a De novo 16q24.1 deletion and missense mutation in COX4I1 leads to developmental regression, intellectual disability, and seizures. [PDF]

Epilepsia Open
Liu Z, He M, Luo X, Pan H, Mao X, Su J.
europepmc   +1 more source

A novel SBF1 missense mutation causes autosomal dominant Charcot-Marie-Tooth disease type 4B3. [PDF]

Front Neurol
Liu H, Dong J, Xie Z, Yu L.
europepmc   +1 more source

The novel SERPINC1 missense mutation c.1148 T > A (p.L383H) causes hereditary antithrombin deficiency and thromboembolism in a Chinese family: a case report. [PDF]

J Med Case Rep
He F, Wang Y, Ning W, Liu C, Guan X, Yao Y.   +5 more
europepmc   +1 more source

Developmental defects in ectodermal appendages caused by missense mutation in edaradd gene in the nfr mangrove killifish kryptolebias marmoratus. [PDF]

Sci Rep
Saud HA, O'Neill PA, Ring BC, Kudoh T.
europepmc   +1 more source

Unveiling Rare Genetic Variants in DAB2IP: New Insights Into the Pathogenesis of Recurrent Angioedema

Allergy, EarlyView.
Maurizio Margaglione, Maria D'Apolito, Rosa Santacroce, Giorgia Cordisco, Francesco Arcoleo, Tiziana De Pasquale, Ilaria Puxeddu, Andrea Zanichelli, Mauro Cancian   +8 more
wiley   +1 more source

Surgical outcomes of a congenital nystagmus family with a missense mutation in the FRMD7 gene. [PDF]

Heliyon
Liu J, Wang M, Pang H, Liu F, Bu J.
europepmc   +1 more source

Algorithms in Allergy: Hereditary Angioedema

Allergy, EarlyView.
Konrad Bork, Markus Magerl, Emel Aygören‐Pürsün, Henriette Farkas   +3 more
wiley   +1 more source

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A leptin missense mutation associated with hypogonadism and morbid obesity

Nature Genetics, 1998
A. Strobel, T. Issad, L. Camoin, M. Ozata, A. Strosberg   +4 more
semanticscholar   +3 more sources