Results 161 to 170 of about 211,802 (307)

Cerebrovascular disease and chronic obstructive pulmonary disease increase risk of complications with robotic partial nephrectomy [PDF]

, 2016
Bauman, Tyler M, Bhayani, Sam B, Potretzke, Aaron M, Sherburne Figenshau, Robert, Vetter, Joel M   +4 more
core   +3 more sources

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Optimizing Proteinuria Evaluation and Management after Acute Kidney Injury: Insights from the Chronic Renal Insufficiency Cohort Study. [PDF]

Kidney360
Kwong YD, Liu KD, McCoy IE, Muiru AN, Weir MR, Unruh ML, Rincon-Choles H, Go AS, Hamm LL, Chen J, Hsu JY, Zhang X, Hsu CY, CRIC Study Investigators.   +13 more
europepmc   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Management and optimization of chronic renal insufficiency in the setting of kidney cancer A Systematic Review. [PDF]

Int Braz J Urol
Cobb JK, Miyagi H, Chahoud J, Bassil C, Spiess PE.   +4 more
europepmc   +1 more source

Metabolite profiling of CKD progression in the chronic renal insufficiency cohort study. [PDF]

JCI Insight, 2022
Wen D, Zheng Z, Surapaneni A, Yu B, Zhou L, Zhou W, Xie D, Shou H, Avila-Pacheco J, Kalim S, He J, Hsu CY, Parsa A, Rao P, Sondheimer J, Townsend R, Waikar SS, Rebholz CM, Denburg MR, Kimmel PL, Vasan RS, Clish CB, Coresh J, Feldman HI, Grams ME, Rhee EP, CKD Biomarkers Consortium and CRIC Study Investigators.   +26 more
europepmc   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Diurnal variation of wearable device-based heart rate variability in the Chronic Renal Insufficiency Cohort study. [PDF]

NPJ Digit Med
Skarke C, Yang W, Sha D, Lahens NF, Isakova T, Unruh M, Deo R, Carmona-Powell E, Holmes JH, Ficarra E, Chen J, He J, Rincon-Choles H, Shah V, Hsu CY, Anderson AH, Lash JP, Rahman M, CRIC Study Investigators.   +18 more
europepmc   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Primary Prevention Aspirin, Lipoprotein(a), and Cardiorenal Outcomes in Chronic Kidney Disease: Chronic Renal Insufficiency Cohort. [PDF]

JACC Adv
Razavi AC, Chen J, Yang W, Sha D, Dzaye O, Bhatia HS, Tsimikas S, Lash JP, Kansal M, Rincon-Choles H, Vaccarino V, Jacobson TA, Budoff MJ, Blumenthal RS, Whelton SP, Sperling LS, Blaha MJ, He J, CRIC Study Investigators.   +18 more
europepmc   +1 more source