Search Results

Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study

• Authors : Jouret, Guillaume; Heide, Solveig; Sorlin, Arthur ...

Subjects: BRD4, BRD4-related syndrome, cohesinopathy, Cornelia de Lange syndrome, NIPBL; MESH: Mutation; [SDV]Life Sciences [q-bio]

• Source: Clinical GeneticsClinical Genetics, 2022, 102 (2), pp.117-122. ⟨10.1111/cge.14141⟩

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ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder

• Authors : Jens Erik Klint Nielsen; Emily Todd; Meena Balasubramanian

Subjects: Male; 0301 basic medicine; Databases, Factual

• Source: Clinical genetics, vol. 100, no. 4 (2021) p. 412-429Oates, S, Absoud, M, Goyal, S, Bayley, S, Baulcomb, J, Sims, A, Riddett, A, Allis, K, Brasch-Andersen, C,

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Functional characterization of the first missense variant in CEP78 , a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility

• Authors : Christiane Neuhofer; Brecht Guillemyn; Pietro Farinelli ...

Subjects: Male; Models, Molecular; 0301 basic medicine

• Source: Hum MutatHuman mutation 41(5), 998-1011 (2020). doi:10.1002/humu.23993Human mutation, vol. 41, no. 5, pp. 998-1011Ascari, G, Peelman, F, Farinelli, P, Rosseel, T, Lambrechts, N,

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ERCC1–XPF cooperates with CTCF and cohesin to facilitate the developmental silencing of imprinted genes

• Authors : Maria Tsekrekou; Theodore Kosteas; George A. Garinis ...

Subjects: 0301 basic medicine; X-linked Nuclear Protein; CCCTC-Binding Factor

• Source: Nature Cell Biology

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Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

• Authors : Caroline Seynaeve; Henrik Flyger; Manjeet K. Bolla ...

Subjects: Carrier Proteins/genetics; Pair 6/genetics; Genes, BRCA2

• Source: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de MadridConsejería de Sanidad de la Comunidad de MadridArticles publicats en revistes (Institut d'lnvestigació

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The novel proteins Rng8 and Rng9 regulate the myosin-V Myo51 during fission yeast cytokinesis

• Authors : Wang, N.; Lo Presti, L.; Zhu, Y.H.

Subjects: 0301 basic medicine; Time Factors; Genotype

• Source: J Cell BiolThe journal of cell biology, vol. 205, no. 3 (2014) p. 357-375Journal of Cell

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Toward aNOTCH1/FBXW7/RAS/PTEN–Based Oncogenetic Risk Classification of Adult T-Cell Acute Lymphoblastic Leukemia: A Group for Research in Adult Acute Lymphoblastic Leukemia Study

• Authors : Trinquand, Amélie; Tanguy-Schmidt, Aline; Ben Abdelali, Raouf ...

Subjects: Ras Proteins/genetics; Male; Time Factors

• Source: Journal of clinical oncology, vol. 31, no. 34 (2013) p. 4333-4342Journal of Clinical Oncology, Vol. 31, No 34 (2013) pp. 4333-42Journal of Clinical OncologyJournal of Clinical

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Mutations in the pre-replication complex cause Meier-Gorlin syndrome

• Authors : Bicknell, Louise S.; Bongers, Ernie M.H.F.; Leitch, Andrea

Subjects: Male; Micrognathism/genetics; DCN 2: Functional Neurogenomics

• Source: Nat GenetNature Genetics, 43, 4, pp. 356-9Bicknell, L S, Bongers, E M H F, Leitch, A, Brown, S, Schoots, J, Harley, M E, Aftimos, S, Al-Aama, J Y, Bober, M,

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CHFR (Checkpoint with fork-head associated and ring finger)

• Authors : Erson-Bensan, Ayse E; Begum Akman, Hesna; Petty, Elizabeth M ...

Subjects: CHFR; cell cycle; checkpoint

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Toward a NOTCH1/FBXW7/RAS/PTEN-based oncogenetic risk classification of adult T-cell acute lymphoblastic leukemia: a Group for Research in Adult Acute Lymphoblastic Leukemia study

• Authors : Trinquand, Amélie; Tanguy-Schmidt, Aline; Ben Abdelali, Raouf

Subjects: info:eu-repo/classification/ddc/616; Adult; Cell Cycle Proteins/genetics

• Source: ISSN: 0732-183X ; Journal of clinical oncology, vol. 31, no. 34 (2013) p. 4333-4342.

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