Results 171 to 180 of about 138,687 (371)

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips, Hagar Mor‐Shaked, Oded Shamriz, Raz Somech, Rawan Abu Omar, Smadar Eventov‐Friedman, Noa Ofek‐Shlomai, Dvorah Zaguer, Tamar Harel   +8 more
wiley   +1 more source

Atopic dermatitis in inborn errors of immunity: at the interface of immunodeficiency and immune dysregulation. [PDF]

Immunol Res
Szczawińska-Popłonyk A.
europepmc   +1 more source

Human intestinal and multivisceral transplantation [PDF]

, 1994
Abu-Elmagd, K, Cillo, U, Fung, JJ, Furukawa, H, Marino, IR, Scotti-Foglieni, CL, Starzl, TE, Todo, S, Tzakis, A   +8 more
core  

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Expanding the Spectrum of Selective IgM Deficiency: From Infections to Immune Dysregulation. [PDF]

Int J Mol Sci
Fumagalli R, Saettini F.
europepmc   +1 more source

Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The National Institute of Health (NIH) Undiagnosed Diseases Program (UDP) is an NIH project with the goal of providing both a comprehensive diagnosis and a better understanding of the many mechanisms of disease for patients with rare and undiagnosed conditions.
Dee Adedipe, Audrey Thurm, Lisa Joseph, Maria T. Acosta, Ellen F. Macnamara, Colby Chlebowski, Riley Kessler, Precilla D'Souza, Lynne Wolfe, Jean M. Johnson, Tyra Estwick, John Yang, Paul R. Lee, Jennifer Murphy, Camilo Toro, Thomas Markello, Dennis Carter, David R. Adams, William A. Gahl, Cynthia J. Tifft   +19 more
wiley   +1 more source

Perioperative Anesthetic and Hormonal Considerations in a Patient With Anti-glutamic Acid Decarboxylase Encephalitis: A Case Report. [PDF]

Cureus
McArdle IW, Malik H, Dotson S, Kohli A.
europepmc   +1 more source

Highly Active Antiretroviral Therapy Interruption: Predictors and Virological and Immunologic Consequences

Journal of Acquired Immune Deficiency Syndromes, 2006
G. Touloumi, N. Pantazis, A. Antoniou, H. Stirnadel, S. Walker, K. Porter   +5 more
semanticscholar   +1 more source

The Risk of Rheumatic Disorders Among Patients With Rhinosinusitis: A Systematic Review and Meta‐Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Emerging evidence suggests a possible link between rhinosinusitis and systemic rheumatic diseases; however, no meta‐analysis has comprehensively examined this association to date. We aimed to investigate if patients with rhinosinusitis have a predisposition to unmasking rheumatic diseases compared to individuals without ...
Arshbir Aulakh, Pradumn Choudhary, Gurwinder Sidhu, Deanna Gigliotti, Jane Jun, Andrew Thamboo   +5 more
wiley   +1 more source

Performance of Immunologic Responses in Predicting Viral Load Suppression: Implications for Monitoring Patients in Resource-Limited Settings

Journal of Acquired Immune Deficiency Syndromes, 2006
D. Moore, J. Mermin, A. Awor, B. Yip, R. Hogg, J. Montaner   +5 more
semanticscholar   +1 more source