Results 91 to 100 of about 1,864 (178)

Association of uncertain significance genetic variants with myocardial mechanics and morphometrics in patients with nonischemic dilated cardiomyopathy

BMC Cardiovascular Disorders
Background Careful interpretation of the relation between phenotype changes of the heart and gene variants detected in dilated cardiomyopathy (DCM) is important for patient care and monitoring.
Karolina Mėlinytė-Ankudavičė, Marius Šukys, Gabrielė Kasputytė, Ričardas Krikštolaitis, Eglė Ereminienė, Grytė Galnaitienė, Vaida Mizarienė, Gintarė Šakalytė, Tomas Krilavičius, Renaldas Jurkevičius   +9 more
doaj   +1 more source

KRIT1 Gene [PDF]

, 2020
openaire   +1 more source

KRIT1 wt Allele [PDF]

, 2020
openaire   +1 more source

22207 - VARIABILIDAD FENOTÍPICA EN LA CAVERNOMATOSIS MÚLTIPLE CEREBRAL FAMILIAR Y UNA MUTACIÓN KRIT1 NO DESCRITA

Neurology Perspectives
I. Esnaola Barriola, M. Molina Goicoechea, E. Escriche Gorospe, P. Miguel Navas, A. Jiménez Delgado, M. Gil Alzueta   +5 more
semanticscholar   +1 more source

Targeted Reversible Covalent Modification of a Noncatalytic Lysine of the Krev Interaction Trapped 1 Protein Enables Site-Directed Screening for Protein-Protein Interaction Inhibitors. [PDF]

ACS Pharmacol Transl Sci, 2023
Francisco KR, Bruystens J, Varricchio C, McCurdy S, Wu J, Lopez-Ramirez MA, Ginsberg M, Caffrey CR, Brancale A, Gingras AR, Hixon MS, Ballatore C.   +11 more
europepmc   +1 more source

Transient Dysphagia as a Presenting Symptom of Familial Cerebral Cavernous Malformation. [PDF]

Cureus
Scott ML, Ross DE.
europepmc   +1 more source

Cerebral cavernous malformation with secondary bacterial infection: illustrative case. [PDF]

J Neurosurg Case Lessons
Gujjari KS, Farsakh A, Mariajoseph FP, Chen BY, Thomas A, Kumar B, Badran A.   +6 more
europepmc   +1 more source

Flow-Sensitive HEG1 Controls eNOS Activity to Prevent Endothelial Dysfunction, Hypertension, and Atherosclerosis. [PDF]

Arterioscler Thromb Vasc Biol
Clark MD, Kim Y, Romero CA, Kang DW, Baek KI, Song EJ, Kellum CE, Bowman-Kirigin JA, Park C, Hung RC, Choi L, Kapoor V, Tsuji S, Pollock JS, Jo H.   +14 more
europepmc   +1 more source

Clinical and molecular landscape of paediatric cerebral and spinal cavernous malformations. [PDF]

Brain Commun
Benichi S, Balducci E, Benzakoun J, Ghannam B, Attieh C, Metais A, Bourgeois M, Guida L, Kaltenbach S, Tauziede-Espariat A, Riant F, Villarese P, Lefevre C, Roux CJ, Puget S, Naggara O, Oppenheim C, Nabbout R, Boddaert N, Beccaria K, Tournier-Lasserve E, Kossorotoff M, Varlet P, Asnafi V, Canaud G, Blauwblomme T.   +25 more
europepmc   +1 more source

Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants. [PDF]

Hum Mol Genet
Sikta N, Gooley S, Green TE, Hoeper O, Witkowski T, Bennett C, Francis D, Reid J, Mao K, Awad M, Roberts-Thomson S, Bulluss K, Clark J, Scheffer IE, Perucca P, Bennett MF, Bahlo M, Berkovic SF, Hildebrand MS.   +18 more
europepmc   +1 more source