Results 111 to 120 of about 325,450 (339)

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Feminization and severe pancytopenia caused by testicular neoplasia in a cryptorchid dog [PDF]

, 2016
In this case report, a paraneoplastic syndrome caused by testicular neoplasia in a ten-year-old cryptorchid dog is described. Feminization and pancytopenia were observed, resulting from the testicular neoplastic production of estrogens.
Hebbelinck, Lien, Kitshoff, Adriaan, Paepe, Dominique, Vandenabeele, Sophie   +3 more
core  

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Thrombocytopenia [PDF]

American Journal of Hematology, 2008
Barbara J, Bain, Ayad, Atra
openaire   +2 more sources

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

De novo and relapsed immune thrombocytopenia after COVID-19 vaccines: results of French safety monitoring [PDF]

, 2022
Guillaume Moulis, Étienne Crickx, Laure Thomas, Nathalie Massy, Matthieu Mahévas, Marie‐Blanche Valnet‐Rabier, Marina Atzenhoffer, Marc Michel, Bertrand Godeau, Haleh Bagheri, Francesco Salvo, and the French Covigilance COVID-19 Vaccine-ITP Study Group   +11 more
openalex   +1 more source

American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel

Arthritis &Rheumatology, EarlyView.
Objective Vacuoles E1 enzyme X‐linked autoinflammatory somatic syndrome (VEXAS) is a recently identified rare genetic disorder associated with somatic mutations in the UBA1 gene. VEXAS presents with a combination of inflammatory and hematologic manifestations, leading to increased morbidity and mortality.
Arsene Mekinian, Sophie Georgin‐Lavialle, Marcela A. Ferrada, Sinisa Savic, Matthew J. Koster, Olivier Kosmider, Thibault Comont, Mael Heilblig, Juan I. Arostegui, Annmarie Bosco, Rim Bourguiba, Katherine R. Calvo, Catherine Cargo, Chiara Cattaneo, François Chasset, Henrique Coelho, Corrado Campochiaro, Francesca Crisafulli, Stephanie Ducharme‐Benard, Raquel Faria, Franco Franceschini, Micol Frassi, Emma M. Groarke, Carmelo Gurnari, Yervand Hakobyan, Yvan Jamilloux, Ciprian Jurcut, Yohei Kirino, Austin Kulasekararaj, Hiroyoshi Kunimoto, Lauren M. Madigan, Heřman F. Mann, Chiara Marvisi, Marcin Milchert, Sara Morais, Katja Sockel, Francesco Muratore, Hideaki Nakajima, Mrinal M. Patnaik, Luísa Regadas, Marie Robin, Abraham Rutgers, Carlo Salvarani, Anthony M. Sammel, Joerg Seebach, Pierre Sujobert, Alessandro Tomelleri, Geoffrey Urbanski, Frédéric Vandergheynst, Romana Vieira, David S. Viswanatha, Ewa Więsik‐Szewczyk, Elisa Diral, Benjamin Terrier, Bhavisha A. Patel, Pierre Fenaux, Peter C. Grayson, David B. Beck, on behalf of the International VEXAS working group, and with endorsement of EuroBloodNet, the European Reference Network in Rare Hematological Diseases, Heřman Mann, Benjamin Terrier, François Chasset, Sophie Georgin Lavialle, Alessandro Tomelleri, Campochiaro Corrado, Carlo Salvarani, Francesca Crisafulli, Franco Franceschini, Micol Frassi, Yohei Kirino, Ewa Więsik‐Szewczyk, Marcin Milchert, Raquel Faria, Ciprian Jurcut, Joerg Seebach, Sinisa Savic, David Beck, Lauren Madigan, Matthew Koster, Patnaik Mrinal, Olivier Kosmider, Pierre Sujobert, Juan I. Arostegui, Catherine Cargo, David Viswanatha, Yervand Hagopian, Mael Heilblig, Pierre Fenaux, Thibault Comont, Bruno Alessandro, Chiara Cattaneo, Elisa Diral, Sara Morais, Austin Kulasekarara, Emma Groarke, Katherine Calvo, Patel Bhavisha, Anthony Sammel, Arsene Mekinian, Benjamin Terrier, Marie Robin, Sophie Georgin Lavialle, Katja Sockel, Yvan Jamilloux, Carmelo Gurnari, Henrique Coelho, Romana Vieira, Rim Bourguiba, Marcela Ferrada, Peter Grayson   +111 more
wiley   +1 more source

Nonalcoholic Fatty Liver Disease and Thrombocytopenia III: Its Association With Insulin Resistance

Clinical and Applied Thrombosis/Hemostasis, 2019
Thrombocytopenia (less than 100 × 10 9 /L platelets) presents in around one quarter of patients with nonalcoholic fatty liver disease (NAFLD), the hepatic component of insulin resistance (IR).
Miguel Antonio López-Trujillo Bsc, Jesús Mauricio Olivares-Gazca MD, Yahveth Cantero-Fortiz MD, Yarely Itzayana García-Navarrete MD, Antonio Cruz-Mora MD, Juan Carlos Olivares-Gazca MD, Iván Murrieta-Álvarez MD, Andrés Aurelio León-Peña MD, Guillermo J. Ruiz-Delgado MD, FACP, Guillermo J. Ruiz-Argüelles MD, FACP FRCP (Glasg), MACP, DSc (hon)   +9 more
doaj   +1 more source

Understanding and Managing Thrombocytopenia in Pregnancy: A Case Series [PDF]

Journal of Clinical and Diagnostic Research
Thrombocytopenia, defined as a platelet count of less than 1.5 L/mm3, is a common haematological disorder encountered during pregnancy. It can arise from a variety of causes, including immune-mediated destruction, gestational thrombocytopenia, and ...
Akshaya Radhakrishnan, A Parimala, K Jayashree Srinivasan, RV Lakshmipriyaa   +3 more
doaj   +1 more source

Case‐Based Immunology: B Cells and Systemic Sclerosis Interstitial Lung Disease

Arthritis &Rheumatology, EarlyView.
Interstitial lung disease (ILD) is an important complication of systemic sclerosis (SSc), with high mortality and morbidity. Recent clinical studies in SSc‐ILD have led to US Food and Drug Administration–approved therapies in SSc‐ILD. Importantly, evidence from these studies has been extrapolated to guide management of ILDs of other systemic autoimmune
Nina Goldman, Voon Ong, Christopher P. Denton   +2 more
wiley   +1 more source