Results 141 to 150 of about 10,344 (220)

Phenotypic Associations of Early Cardiovascular Surgery in Pediatric Marfan Syndrome. [PDF]

Children (Basel)
Stark VC, Mir TS, Langkat C, Biermann D, Kanitz JJ, Schoen G, von Kodolitsch Y, Lang N, Kozlik-Feldmann R, Huebler M, Olfe J.   +10 more
europepmc   +1 more source

Cardiovascular and Clinical Manifestations of Marfan Syndrome and Other Inherited Connective Tissue Disorders with Coexisting Genetic Variants. [PDF]

Cells
Soto ME, Vargas-Alarcón G, Huesca-Gómez C, Pérez-Torres I, Arias-Godínez JA, Meza-Toledo SE, Mora-Cervantes R, Rodríguez-Zanella H, Meléndez-Ramírez G, Manzano-Pech L, Fuentevilla-Álvarez G, Gamboa R.   +11 more
europepmc   +1 more source

Identification and regulatory mechanism analysis of macrophage-related key genes in diabetic nephropathy. [PDF]

Diabetol Metab Syndr
Wang H, Zhang L, Shi B, Li H, Liu Y, Zhu L.   +5 more
europepmc   +1 more source

Case Report: A rare coexistence with severe aortic root dilatation and nutcracker phenomenon in pediatric Marfan syndrome. [PDF]

Front Pediatr
Qiao X, Chen Y, Su D, Shang L, Pang Y.
europepmc   +1 more source

Interpretation and classification of FBN1 variants associated with Marfan syndrome : consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel

: BackgroundIn 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders.
Robert, L., Little, L., Morisaki, T., Harris, S., Kotzer, K., Morisaki, H., Renard, M., Baudhuin, L.M., Cecchi, A., Guo, D., Drackley, A., Jarinova, O., Muino-Mosquera, L., Milewicz, D., Van Laer, Lut, Dietz, H., Loeys, Bart, Hanna, N., Kluge, M.L., Ouzounian, M., Meester, Josephina, Bronicki, L., Richer, J., De Backer, J., Somerville, C., Boileau, C., Maccarrick, G., Callewaert, B., Arnaud, P., Murdock, D., Lindsay, M.   +30 more
core  

Acromelic dysplasias: similarities and differences in clinical and molecular findings in 12 Turkish patients. [PDF]

Eur J Pediatr
Güneş N, Türk S, Onur H, Gür K, Yüksel Elgin C, Çifçi Sunamak E, Uludağ Alkaya D, Eroğlu AG, Tüysüz B.   +8 more
europepmc   +1 more source

Sex-dependent alterations of the femoral geometry in a mouse model of Marfan syndrome. [PDF]

JBMR Plus
Agostini-Walesch G, Gallagher T, Tibble B, Stimpson A, Esfandiarei M.   +4 more
europepmc   +1 more source

Genome Sequencing Readily Detects a Copy Number Variant in <i>FBN1</i> in a Patient with Marfan Syndrome. [PDF]

CJC Open
Jean F, Stuart A, Care4Rare Canada Consortium, Marcadier J, Bernier FP, Lamont RE.   +5 more
europepmc   +1 more source

<i>ADAMTS</i> and <i>ADAMTSL</i> mutations in connective tissue disorders. [PDF]

Physiology (Bethesda)
Alcocer AD, Rush EH, Mead TJ.
europepmc   +1 more source

YY1/Asprosin/PFKP axis regulates glycolytic metabolic and exacerbates pathological cardiac hypertrophy. [PDF]

Nat Commun
Tong M, Liu X, Yu Y, Zhang Y, Zheng J, Li Y, Chen H, Liu L, Li Y, Wang Z, Chen Y, Cao S, Zhang Q, Jia H, Liu S, Li H, Liu X, Zhao Y, Du Z, Zhang Y.   +19 more
europepmc   +1 more source