A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature.

Autor: Lanz AL; Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Lindwurmstrasse 4, 80337, Munich, Germany., Erdem S; Department of Medical Biology, Faculty of Medicine, Erciyes University, 38030, Kayseri, Turkey.; Molecular Biology and Genetics Department, Gevher Nesibe Genome and Stem Cell Institute, Betul-Ziya Eren Genome and Stem Cell Center (GENKOK), Erciyes University, Kayseri, Turkey., Ozcan A; Molecular Biology and Genetics Department, Gevher Nesibe Genome and Stem Cell Institute, Betul-Ziya Eren Genome and Stem Cell Center (GENKOK), Erciyes University, Kayseri, Turkey., Ceylaner G; Intergen, Ankara, Turkey., Cansever M; Division of Pediatric Hematology & Oncology, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Ceylaner S; Intergen, Ankara, Turkey., Conca R; Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Lindwurmstrasse 4, 80337, Munich, Germany., Magg T; Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Lindwurmstrasse 4, 80337, Munich, Germany., Acuto O; T Cell Signalling Laboratory, Sir William Dunn School of Pathology, Oxford University, Oxford, OX2 3RE, UK., Latour S; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR1163, Paris, France., Klein C; Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Lindwurmstrasse 4, 80337, Munich, Germany., Patiroglu T; Division of Pediatric Hematology & Oncology, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Unal E; Molecular Biology and Genetics Department, Gevher Nesibe Genome and Stem Cell Institute, Betul-Ziya Eren Genome and Stem Cell Center (GENKOK), Erciyes University, Kayseri, Turkey.; Intergen, Ankara, Turkey.; Hasan Kalyoncu University, Faculty of Health Sciences, Medical Point Hospital, Gaziantep, Türkiye., Eken A; Department of Medical Biology, Faculty of Medicine, Erciyes University, 38030, Kayseri, Turkey. ahmet.eken@gmail.com.; Molecular Biology and Genetics Department, Gevher Nesibe Genome and Stem Cell Institute, Betul-Ziya Eren Genome and Stem Cell Center (GENKOK), Erciyes University, Kayseri, Turkey. ahmet.eken@gmail.com., Hauck F; Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Lindwurmstrasse 4, 80337, Munich, Germany. fabian.hauck@med.uni-muenchen.de.; Munich Centre for Rare Diseases (M-ZSELMU), University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany. fabian.hauck@med.uni-muenchen.de.

Publikováno v: Journal of clinical immunology [J Clin Immunol] 2023 Dec 15; Vol. 44 (1), pp. 1. Date of Electronic Publication: 2023 Dec 15.

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The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS.

Autor: Kılavuz S; Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey., Bulut D; Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey., Kor D; Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey., Şeker-Yılmaz B; Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Mersin University Faculty of Medicine, Mersin, Turkey., Özcan N; Division of Pediatric Neurology, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey., Incecik F; Division of Pediatric Neurology, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey., Onan B; Department of Radiology, Çukurova University Faculty of Medicine, Adana, Turkey., Ceylaner G; Department of Medical Genetics, Intergen Genetics Centre, Ankara, Turkey., Önenli-Mungan N; Division of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey.

Publikováno v: Neuropediatrics [Neuropediatrics] 2021 Oct; Vol. 52 (5), pp. 358-369. Date of Electronic Publication: 2021 Feb 12.

Isolated congenital diaphragm hernia associated with homozygous SLIT3 gene variant in dizygous twins.

Autor: Kaya TB; Eskişehir Osmangazi University Faculty of Medicine, Department of Neonatology, Eskişehir, Turkey. Electronic address: tugbarsan@hotmail.com., Aydemir O; Eskişehir Osmangazi University Faculty of Medicine, Department of Neonatology, Eskişehir, Turkey., Ceylaner S; Intergen Genetics Center, Ankara, Turkey., Ceylaner G; Intergen Genetics Center, Ankara, Turkey., Tekin AN; Eskişehir Osmangazi University Faculty of Medicine, Department of Neonatology, Eskişehir, Turkey.

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2021 Jul; Vol. 64 (7), pp. 104215. Date of Electronic Publication: 2021 Apr 30.

A New Family with Autosomal Dominant Porencephaly with A Novel Col4A1 Mutation. Are Arachnoid Cysts Related to Col4A1 Mutations?

Autor: Deǧerliyurt, A., Ceylaner, G., Koçak, H., Bilginer Gürbüz, B., Cihan, B. S., Rizzu, P., Ceylaner, S.

Publikováno v: Degerliyurt, A, Ceylaner, G, Kocak, H, Gurbuz, B B, Cihan, B S, Rizzu, P & Ceylaner, S 2012, ' A New Family with Autosomal Dominant Porencephaly with A Novel Col4A1 Mutation. Are Arachnoid Cysts Related to Col4A1 Mutations? ', Genetic Counseling, vol. 23, no. 2, pp. 185-193 .
Genetic Counseling, 23(2), 185-193. Editions Medecine et Hygiene
Scopus-Elsevier

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https://research.vumc.nl/en/publications/0f8f769a-1f5e-477a-8943-5506177e19cb