Results 231 to 240 of about 50,464 (295)

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Real-world data on trastuzumab emtansine (TDM1) efficacy and safety: Results of a single-centre retrospective study of HER2-positive metastatic breast cancer patients. [PDF]

Sci Rep
Gupta A, Sansar B, Mishra BK, Khan A, Singh A, Upadhyay A, Chowdhury Z, Patne S, Tripathi M, Shukla S, Singh SN, Pujari L, Giridhar P, Kapoor AR, Suresh A, Dey S, Vinayak KR, Singh N, Kumar A, Pal A, Kapoor A.   +20 more
europepmc   +1 more source

Determination of Glutamic Oxalacetic Transaminase Activity by Coupling of Oxalacetate with Diazonium Salts

, 1967
Sylvan M Sax, John J. Moore
openalex   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Severe pneumonia caused by Legionella pneumophila associated with Tropheryma whipplei: A case report. [PDF]

Medicine (Baltimore)
Jin D, Li F, Fang J, Wang J, Li ST.
europepmc   +1 more source

The Role of SLC39A8.p.(Ala391Thr) in Schizophrenia Symptom Severity and Cognitive Ability: Cross‐Sectional Studies of Schizophrenia and the General UK Population

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The missense SNP NC_000004.12:g.102267552C>T (also known as SLC39A8.p.(Ala391Thr), rs13107325) in SLC39A8 encodes a zinc transporter. This SNP has been linked to schizophrenia and is the likely causal variant for one of the genome‐wide association loci associated with the disorder. Using regression analyses, we tested whether the schizophrenia‐
Sophie E. Smart, Sophie E. Legge, Eilidh Fenner, Antonio F. Pardiñas, Grace Woolway, Amy J. Lynham, Valentina Escott‐Price, Jeremy Hall, Lawrence Wilkinson, Peter Holmans, Michael C. O'Donovan, Michael J. Owen, James T.R. Walters   +12 more
wiley   +1 more source

Occult Abdominal Trauma Screening in the Evaluation of Suspected Child Physical Abuse. [PDF]

Pediatr Open Sci
Ruiz-Maldonado TM, Wood JN, Laskey AL, Greeley CS, Bachim A, Lindberg DM, Anderst J, Melville J, Coombs C, Harper NS, Frasier L, Brink FW, Crumm CE, Campbell KA.   +13 more
europepmc   +1 more source

Rapid severe hypertension and organ damage in two‐kidney two‐clip rats produced by different sizes of clips

Animal Models and Experimental Medicine, EarlyView.
Blood pressure increases immediately when the 2K2C rats (made with 0.3, 0.25, and 0.2 mm U‐shaped clips) regain consciousness from anesthesia. 100% of the rats develop hypertension on the day of 2K2C surgery. Blood pressure continues to rise, resulting in severe hypertension and organ damage to the brain, heart, aorta, and kidneys at 1, 2, 4, and 6 ...
Jia‐Sheng Tian, Qi‐Sheng Ling, Yu‐Chen Wei, Dao‐Xin Wang, Chao‐Yu Miao   +4 more
wiley   +1 more source

From Cholesterol Control to Critical Illness: A Case of Statin-Associated Rhabdomyolysis With Concurrent Acute Kidney Injury and Hepatotoxicity. [PDF]

Cureus
Habeb B, Khair S, Fowler S.
europepmc   +1 more source

Serum transaminases in the newborn.

Indian pediatrics, 1990
L, RAMAKUMAR, K N, DOGRA, S C, SOOD
openaire   +2 more sources