Results 161 to 170 of about 106,718 (217)

Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing. [PDF]

Orphanet J Rare Dis
Błaszczyk E, Więcek M, Jazela-Stanek A, Kudela G, Koszutski T, Kowalczyk K, Sikora J, Wiernik A, Żarczyńska M, Kempińska W, Bielska-Brodziak A, Gawlik-Starzyk A.   +11 more
europepmc   +1 more source

Ovarian Cancer: Epidemiology, Disease Mechanisms, New Diagnosis and Treatment Strategies, and Research Directions

iNew Medicine, EarlyView.
ABSTRACT Ovarian cancer (OC) continues to be the deadliest gynecological malignancy and a significant cause of cancer‐related mortality among women worldwide. Standard treatment strategies typically entail platinum‐based chemotherapy in conjunction with cytoreductive surgery.
Zunera Khalid, Weirong Fan, Farah Nazir, Yixiang Xing, Tengchuan Jin   +4 more
wiley   +1 more source

Diagnostic yield and variant spectrum of whole-exome sequencing in Iranian probands with congenital and early-onset ocular disorders. [PDF]

Mol Genet Metab Rep
Asadi A, Sadat Shandiz SA, Ebrahimi A, Hosseini ZS, Shirsalimi N, Neamatzadeh H, Ebrahimi A.   +6 more
europepmc   +1 more source

Genetic Biomarkers in the Risk Assessment of Sudden Cardiac Events: A Personalized Approach

iNew Medicine, EarlyView.
Genetic insights into the risk assessment of sudden cardiac events. ABSTRACT Sudden cardiac events are the leading cause of death worldwide. Conventional risk stratification methods, which largely depend on clinical history, imaging, and electrocardiography, are usually inadequate for identifying high‐risk individuals, especially those without visible ...
Shrikant Verma, Sushma Verma, Mohammad Abbas, Tabrez Faruqui, Bashir Ahmad Mir, Farzana Mahdi   +5 more
wiley   +1 more source

A preterm neonate with infantile liver failure syndrome 1 due to leucyl‐tRNA synthetase 1 gene (LARS1) mutations with a histopathologic phenotype of neonatal hemochromatosis

JPGN Reports, EarlyView.
Abstract We report a case of a premature, growth‐restricted female infant with feeding intolerance and coagulopathy, treated initially for sepsis, who progressed to neonatal acute liver failure and end‐stage hepatic encephalopathy after a prolonged hospitalization with extensive diagnostic evaluation, and was found by autopsy to have histopathologic ...
Adrienne Bruder, Naomi Laventhal, Raja Rabah, Jacqueline Meadow   +3 more
wiley   +1 more source

First Detection of 1p36 Deletion by Whole-Exome Sequencing in a Tunisian Patient. [PDF]

Birth Defects Res
Kerkeni N, Kharrat M, Kraoua L, Achour A, Maazoul F, Mrad R, Trabelsi M.   +6 more
europepmc   +1 more source

The genetic landscape of congenital diarrheas and very early onset inflammatory bowel disease in the Middle East

JPGN Reports, EarlyView.
Abstract Objectives Monogenic causes of congenital diarrheas and enteropathies (CoDE) and very early onset inflammatory bowel disease (VEOIBD) are mostly recessive and therefore more prevalent in populations with increased consanguinity rates. To assess the genetic basis of these disorders in a likely high‐prevalence population, we established a multi ...
Lily Gillette, Muna Al Safar, Ganeshwaran H. Mochida, Casey Johnson, Stephen Babcock, Klaus Schmitz‐Abe, Michael Field, Jessica Yang, Richelle Bearup, Ahmed Megahed, Mohammed Ezz El Regal Abbas, Tarek Baraket, Sherine Elziny, Ali Sobh, Gulin Eren, Fawaz AlRefaee, Rana Bitar, Mohamed Miqdady, Pankaj B. Agrawal, Scott B. Snapper, Jay R. Thiagarajah, Jodie Ouahed   +21 more
wiley   +1 more source

The genetic etiology of spontaneous abortion: insights from chromosomal microarray analysis and whole-exome sequencing. [PDF]

Sci Rep
Wang L, Liu P, Huang W, Li M, Yin J, Xue S.   +5 more
europepmc   +1 more source

Ultrasound findings associated with neonatal acute liver failure secondary to gestational alloimmune liver disease: A case series

JPGN Reports, EarlyView.
Abstract Objectives Gestational alloimmune liver disease is the leading cause of neonatal acute liver failure, hypothesized to emerge from maternal exposure to an antigen that is expressed on fetal hepatocytes, resulting in maternal‐fetal alloimmune attack and activation of the complement cascade.
Naseem Ravanbakhsh, Ashley M. Upton, Chun‐Sing Huang, Nhu Thao N. Galván, John Goss, Sanjiv Harpavat, Jose A. Hernandez   +6 more
wiley   +1 more source

Expanding prenatal diagnosis: clinical utility of prenatal whole-exome sequencing in a Romanian case series with fetal anomalies. [PDF]

J Med Life
Manea-Săbău ID, Nenciu AE, Varlas VN, Curici A, Riza M, Mitroi M, Radu RM, Suciu-Lazar V, Ceaușu I.   +8 more
europepmc   +1 more source