Results 31 to 40 of about 427,618 (269)

Case Report: Aplastic anemia related to a novel CTLA4 variant

Frontiers in Pediatrics
A 20-year-old male patient with a history of celiac disease came to medical attention after developing profound fatigue and pancytopenia. Evaluation demonstrated pan-hypogammaglobulinemia. There was no history of significant clinical infections.
Geoffrey Hall, Janet G. Markle, James Maiarana, Paul L. Martin, Jennifer A. Rothman, John W. Sleasman, Howard Lederman, Antoine E. Azar, Robert A. Brodsky, Talal Mousallem   +9 more
doaj   +1 more source

Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease‐causing variants

Molecular Genetics & Genomic Medicine, 2022
Background Hyperphenylalaninemia (HPA) is the most common inborn error of amino acid metabolism worldwide. At least 2% of HPA cases are caused by a deficiency in tetrahydrobiopterin (BH4) metabolism.
Seyedeh Helia Sadat Fatemi, Peyman Eshraghi, Mahmoud Ghanei, Tayebeh Hamzehloei   +3 more
doaj   +1 more source

Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2

Biomedical Papers, 2017
Introduction: Episodic ataxias (EAs) are rare dominantly inherited neurological disorders characterized by recurrent episodes of ataxia lasting minutes to hours.
Andrea Petrovicova, Miroslav Brozman, Egon Kurca, Tibor Gobo, Jana Dluha, Klaudia Kalmarova, Vladimir Nosal, Martina Hikkelova, Adriana Krajciova, Tatiana Burjanivova, Stefan Sivak   +10 more
doaj   +1 more source

Case report: A novel de novo loss of function variant in the DNA-binding domain of TBX2 causes severe osteochondrodysplasia

Frontiers in Genetics, 2023
Background: T-box family members are transcription factors characterized by highly conserved residues corresponding to the DNA-binding domain known as the T-box. TBX2 has been implicated in several developmental processes, such as coordinating cell fate,
Misbahuddin M. Rafeeq, Hussam Aly Sayed Murad, Najumuddin, Samee Ullah, Zaheer Ahmed, Qamre Alam, Muhammad Bilal, Alaa Hamed Habib, Ziaullah M. Sain, Muhammad Jawad Khan, Muhammad Umair, Muhammad Umair   +11 more
doaj   +1 more source

Communication and Language Profiles of Children Treated for Posterior Fossa Brain Tumors

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Cognitive and language deficits are frequently reported sequelae of posterior fossa brain tumors (PFBT). Typically, delayed onset impedes prompt assessment and early intervention. This has devastating implications for quality of life.
Zara Sved, Meghan Hesse, Jennie Cusiter, Annabel Webb, Kimberley Docking   +4 more
wiley   +1 more source

Case Report: Profound newborn leukopenia related to a novel RAC2 variant

Frontiers in Pediatrics
We report the case of a 1-week-old male born full-term, who had two inconclusive severe combined immunodeficiency (SCID) newborn screens and developed scalp cellulitis and Escherichia coli bacteremia.
Geoffrey Hall, Ágnes Donkó, Cristina Pratt, Julie J. Kim-Chang, Paul L. Martin, Amy P. Stallings, John W. Sleasman, Steven M. Holland, Amy P. Hsu, Thomas L. Leto, Talal Mousallem   +10 more
doaj   +1 more source

A NovelSHOC2Variant in Rasopathy [PDF]

Human Mutation, 2014
Rasopathies are a group of genetic disorders caused by germline mutations in multiple genes of the Extracellular signal-Regulated Kinases 1 and 2 (ERK1/2) pathway. The only previously identified missense mutation in SHOC2, a scaffold protein of the ERK1/2 pathway, led to Noonan-like syndrome with loose anagen hair.
Vickie, Hannig, Myoungkun, Jeoung, Eun Ryoung, Jang, John A, Phillips, Emilia, Galperin   +4 more
openaire   +2 more sources

The HIT Network for Children and Adolescents With CNS Tumors Facilitates Improvements of Diagnostic Assessments, Multimodal Treatments, Individual Counseling, and Research in Germany, Austria, and Switzerland

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background The HIT network was established in 2000 to create a population‐based structure aiming to improve survival rates and reduce late effects for children with central nervous system (CNS) tumors by conducting comprehensive clinical trials.
Stefan Rutkowski, Michael C. Frühwald, Gudrun Fleischhack, Stephan Tippelt, Pablo Hernáiz‐Driever, Olaf Witt, Astrid Gnekow, Christof Kramm, Matthias Eyrich, Johannes E. A. Wolf, Hermann Müller, Carsten Friedrich, Uwe R. Kordes, Denise Obrecht‐Sturm, Petra Ketteler, Barbara von Zezschwitz, Pascal Johann, Dominik Sturm, Karoline Nemes, Stefan Schönberger, Till Milde, Brigitte Bison, Monika Warmuth‐Metz, Torsten Pietsch, Ulrich Schüller, Arend Koch, David Capper, Martin Hasselblatt, Christian Thomas, Christian Hagel, Stefan M. Pfister, Felix Sahm, David T. W. Jones, Martin U. Schuhmann, Jürgen Krauss, Pedram Emami, Ahmed El Damaty, Rolf D. Kortmann, Rudolf Schwarz, Jürgen Debus, Mechthild Krause, Fabian Pohl, Holger Ottensmeier, Lisa Bußenius, Katja Baust, Andreas Faldum, Cecile Ronckers, Desiree Grabow, Martin Benesch, Thomas Perwein, Karin Dieckmann, Irene Slavc, Johannes Gojo, Nicolas U. Gerber, André O. von Bueren, Katrin Scheinemann, Gabriele Calaminus, Beate Timmermann, Ulrich‐Wilhelm Thomale, Martin Mynarek   +59 more
wiley   +1 more source

Novel Gene Mutation Variant in Hypomyelinating Leukodystrophy-8: A Case Report

Medical Journal of Dr. D.Y. Patil Vidyapeeth
The incidence of hypomyelinating leukodystrophies is approximately 1 in every 250,000–500,000 individuals in the population. Hypomyelinating leukodystrophy-8 (HLD-8) is characterized by classical clinical features, including modest intellectual deficits ...
Shalesh Rohatgi, Pranit Khandait, Satish Nirhale, Prajwal Rao, Pravin Naphade   +4 more
doaj   +1 more source

Identification of a novel KIF11 variant p.(Leu804Thrfs Ter13) in a case with isolated microcephaly

Journal of Head & Neck Physicians and Surgeons, 2022
Microcephaly is a rare neurological condition, and it is characterized by a smaller head than other children of the same age and sex. Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MLCRD) is a syndrome with a varying ...
Sinem Yalcintepe, Hazal Sezginer Guler, Drenushe Zhuri, Damla Eker, Hakan Gurkan   +4 more
doaj   +1 more source