Results 171 to 180 of about 2,120 (245)

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Bilateral Three-Port Video-Assisted Thoracoscopic Thymectomy for Thymoma in Good's Syndrome With a History of Bacteremia. [PDF]

Cureus
Shibayama R, Fujimori S, Suzuki S, Ohtsuka R, Karasaki T.   +4 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

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

Good's Syndrome With Pure Red Cell Aplasia and Subclinical Myasthenia Gravis: A Case Report and Review of Literature. [PDF]

Cureus
Hashiro W, Miyashita A, Kawaji-Kanayama Y, Okamoto H, Fujino T, Tsukamoto T, Mizutani S, Shimura Y, Kuroda J.   +8 more
europepmc   +1 more source

A case of Good's syndrome complicated by erythema multiforme. [PDF]

BMJ Case Rep, 2019
Glick LR, Wilson WW, Fletcher M.
europepmc   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Immunodeficiency associated with tumour pathology: Good's syndrome. [PDF]

BMJ Case Rep, 2019
Barrios Recio J, Perez Rodriguez A, Callero A, Martinez Tadeo JA.   +3 more
europepmc   +1 more source

THE NEW PARADIGM OF RECOVERY FROM SCHIZOPHRENIA: CULTURAL CONUNDRUMS OF IMPROVEMENT WITHOUT CURE [PDF]

, 2006
CARPENTER-SONG, ELIZABETH, JENKINS, JANIS H   +1 more
core  

Immunological system status and the appearance of respiratory system disturbances in thymectomized patients [PDF]

, 2007
A. H. Sharpe, A. J. Coyle, A. M. Masci, A. R. Hayward, D. C. Strollo, E. Jimenez, E. V. Rothenberg, Elżbieta Korobowicz, G. D. Sempowski, H. K. Muller-Hermelink, I. Moysset, J. F. Miller, Janusz Milanowski, M. Matsui, Marta Adamczyk-Korbel, N. Nagvekar, P. E. Tarr, P. J.. Loehrer Sr, P. Strobel, Paweł Krawczyk, R. A. Good, Robert Kieszko, S. M. Arend, S. Mizobuchi, S. Raschal, V. Hoffacker, Y. Ito   +26 more
core   +2 more sources