نتائج البحث

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy.

• Authors : Biancalana V; Laboratoire Diagnostic Génétique, Faculté de Médecine, CHRU, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091, Strasbourg, France. .; Institut de Génétique et de Biologie Moléculaire et Cellulaire, IGBMC, Illkirch, France. .

Subjects: Dynamins/Dynamins/Dynamins/*genetics ; Muscle, Skeletal/Muscle, Skeletal/Muscle, Skeletal/*pathology ; Mutation/Mutation/Mutation/*genetics

• Source: Acta neuropathologica communications [Acta Neuropathol Commun] 2018 Sep 12; Vol. 6 (1), pp. 93. Date of Electronic Publication: 2018 Sep 12.Publisher: BioMed Central Country of Publication: England NLM ID: 101610673 Publication Model: Electronic Cited Medium: Internet ISSN: 2051-5960

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Phenocopy in a patient with triple negative breast cancer: a case report

• Authors : Gustavo Henrique Morcelli da Costa; Eduarda Scoto Dias; Naiara Bozza Pegoraro

Subjects: Phenotype; Breast neoplasms; Mutation

• Source: Einstein (São Paulo), Vol 21 (2023)

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Phenocopy in a patient with triple negative breast cancer: a case report.

• Authors : Morcelli da Costa, Gustavo Henrique¹; Scoto Dias, Eduarda¹; Bozza Pegoraro, Naiara¹

• Source: Einstein (16794508). 2023, Vol. 21, p1-4. 4p.

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Stress-induced phenocopy of C. elegans defines functional steps of sensory organ differentiation

• Authors : Kwok Wai Chan; King Lau Chow

Subjects: Male; Nematode caenorhabditis elegans; Sensory system

• Source: Development, Growth and Differentiation. 41:629-637

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Variation in zygotic CRISPR/Cas9 gene editing outcomes generates novel reporter and deletion alleles at the Gdf11 locus

• Authors : Samuel J. Wattrus; Miook Cho; Austin Valido

Subjects: Male; Green Fluorescent Proteins; Glutamic Acid

• Source: Scientific Reports, Vol 9, Iss 1, Pp 1-19 (2019)Scientific Reports

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Screening for Fabry Disease in patients with unexplained left ventricular hypertrophy

• Authors : Jeffrey Ka-Tat Wong; Kevin Ka-Ho Kam; David K. H. Chan

Subjects: 0301 basic medicine; Male; DNA Mutational Analysis

• Source: PLoS ONEPLoS ONE, Vol 15, Iss 9, p e0239675 (2020)

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Variation in phenotypes from a Bmp-Gata3 genetic pathway is modulated by Shh signaling

• Authors : Johann K. Eberhart; Mary E. Swartz; C. Ben Lovely

Subjects: Cancer Research; Cell signaling; Embryology

• Source: PLoS Genetics, Vol 17, Iss 5, p e1009579 (2021)PLoS Genetics

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Potassium Channel-Associated Bioelectricity of the Dermomyotome Determines Fin Patterning in Zebrafish

• Authors : Renata Freitas; Greg Golling; Kenny H Chen

Subjects: Potassium Channels; Bioelectric Energy Sources; Mutant

• Source: Genetics

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Low‐GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization

• Authors : Ye Yang; Mei-Hong Zhang; Yu‐Ren Hong

Subjects: medicine.medical_specialty; Cholestasis, Intrahepatic; Compound heterozygosity

• Source: Liver International. 40:1142-1150

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Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains

• Authors : Francesca Persichetti; Jayalakshmi Srinidhi; Lisa Kanaley

Subjects: Huntington's disease; mutation; neuropathology

• Source: Neurobiology of Disease, Vol 1, Iss 3, Pp 159-166 (1994)

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