Results 71 to 80 of about 645,542 (342)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Persistent High Level of Urinary Tumor Marker Carbohydrate Antigen 19-9 in Prenatally Diagnosed Dysplastic Kidney

Case Reports in Urology, 2014
Tumor marker carbohydrate antigen 19-9 (CA 19-9) level has gained clinical significance in gastrointestinal malignancies and in various solid and cystic diseases.
Reza Khorramirouz, Maryam Ebadi, Fatemeh Rahimi Sherbaf, Abdol-Mohammad Kajbafzadeh   +3 more
doaj   +1 more source

Multilocular Cystic Renal Cell Carcinoma: An Unusual Gross Appearance [PDF]

, 2011
Multilocular Cystic Renal Cell Carcinoma (MCRCC) represents a rare variant of clear cell (conventional) renal cell carcinomas. Attributable to its distinct characteristics in prognosis and its natural history, MCRCC was recognised as a separate subtype ...
Jagtap, SV, Jain, G, Mali, RK, Nikumbh, DB   +3 more
core   +1 more source

Mercapturate Pathway in the Tubulocentric Perspective of Diabetic Kidney Disease [PDF]

, 2019
BACKGROUND: The recent growing evidence that the proximal tubule underlies the early pathogenesis of diabetic kidney disease (DKD) is unveiling novel and promising perspectives.
Antunes, A, Coelho, N, Correia, MJ, Gonçalves-Dias, C, Macedo, MP, Monteiro, E, Morello, J, Soto, K, et al.   +7 more
core   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Exploring the Spectrum of Kidney Ciliopathies

Diagnostics, 2020
Ciliopathies are a group of multi-organ diseases caused by the disruption of the primary cilium. This event leads to a variety of kidney disorders, including nephronophthisis, renal cystic dysplasia, and renal cell carcinoma (RCC).
Matteo Santoni, Francesco Piva, Alessia Cimadamore, Matteo Giulietti, Nicola Battelli, Rodolfo Montironi, Laura Cosmai, Camillo Porta   +7 more
doaj   +1 more source

Pro-Secretory Activity and Pharmacology in Rabbits of an Aminophenyl-1,3,5-Triazine CFTR Activator for Dry Eye Disorders. [PDF]

, 2017
PurposePharmacological activation of ocular surface cystic fibrosis transmembrane conductance regulator (CFTR) chloride channels is a potential pro-secretory approach to treat dry eye disorders.
Felix, Christian M, Lee, Sujin, Levin, Marc H, Verkman, Alan S   +3 more
core   +2 more sources

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source