المؤلفون: Nahid Rezaie, Nader Mansour Samaei, Ayda Ghorbani, Naghmeh Gholipour, Shohreh Vosough, Mahboobeh Rafigh, Abolfazl Amini

المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: H syndrome, SLC29A3 gene, Novel mutation, Hyperpigmentation, Whole-exome sequencing, Iran, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8794Test

الوصول الحر: https://doaj.org/article/309defaaceb94771810f99783817504eTest

المؤلفون: Hamza Chouk, Mohamed Ben Rejeb, Lobna Boussofara, Haїfa Elmabrouk, Najet Ghariani, Badreddine Sriha, Ali Saad, Dorra H’Mida, Mohamed Denguezli

المصدر: Human Genomics, Vol 15, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: SLC29A3 gene, H syndrome, Rosai–Dorfman disease, Histiocytosis, Genodermatosis, hENT3, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1479-7364Test

الوصول الحر: https://doaj.org/article/1f39f673352940a4b7b04d8a74f1f9beTest

المؤلفون: Zaimi Y, Ayari M, Mensi A, Bel Hadj Kacem L, Achouri L, Bouzrara M, Said Y, Mouelhi L, Debbeche R

المصدر: The Application of Clinical Genetics, Vol Volume 14, Pp 235-239 (2021)

مصطلحات موضوعية: h syndrome, slc29a3 gene, rare disease, pseudo-meigs' syndrome, tunisian patient, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.dovepress.com/pseudo-meigsrsquo-syndrome-in-tunisian-h-syndrome-female-patient-first-peer-reviewed-article-TACGTest; https://doaj.org/toc/1178-704XTest

الوصول الحر: https://doaj.org/article/8ee01dc4f0d74288b92183bf7a95a04dTest

المؤلفون: Mohammad Razmyar, Zahra Rezaieyazdi, Naser Tayebi Meibodi, Zahra Fazel, Pouran Layegh

المصدر: International Journal of Pediatrics, Vol 6, Iss 7, Pp 7965-7971 (2018)

مصطلحات موضوعية: Children, H syndrome, Genodermatosis, SLC29A3 gene mutation, Pediatrics, RJ1-570

العلاقة: http://ijp.mums.ac.ir/article_10613_eb6c0c085389eab5c01d7e34165029b1.pdfTest; https://doaj.org/toc/2345-5047Test; https://doaj.org/toc/2345-5055Test; https://doaj.org/article/4ba47483248b49d69f2c945ddd5d4916Test

الإتاحة: https://doi.org/10.22038/ijp.2018.29988.2638Test
https://doaj.org/article/4ba47483248b49d69f2c945ddd5d4916Test

المؤلفون: Leila Achouri, Leila Mouelhi, Y Zaimi, Meriem Bouzrara, Linda Bel Hadj Kacem, Yosra Said, M Ayari, A. Mensi, Radhouane Debbeche

المصدر: The Application of Clinical Genetics

مصطلحات موضوعية: 0301 basic medicine, Hypertrichosis, Pathology, medicine.medical_specialty, SLC29A3 gene, H syndrome, rare disease, Case Report, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Pleiotropism, Ascites, Genetics, medicine, Meigs' syndrome, Tunisian patient, Genetics (clinical), business.industry, medicine.disease, Serous Cystadenoma, pseudo-Meigs’ syndrome, Hyperpigmentation, 030104 developmental biology, medicine.symptom, business, 030217 neurology & neurosurgery, Rare disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0467584a527f3b693ca91dde9d5972dTest
http://europepmc.org/articles/PMC8055247Test

المؤلفون: Ali Saad, Mohamed Denguezli, Badreddine Sriha, Mohamed Ben Rejeb, D. Hmida, Hamza Chouk, Najet Ghariani, Haїfa Elmabrouk, Lobna Boussofara

المصدر: Human Genomics, Vol 15, Iss 1, Pp 1-10 (2021)
Human Genomics

مصطلحات موضوعية: Contracture, SLC29A3 gene, H syndrome, Hearing Loss, Sensorineural, Nucleoside Transport Proteins, QH426-470, Gene mutation, Biology, medicine.disease_cause, hENT3, Exon, symbols.namesake, Drug Discovery, Genetics, medicine, Humans, Missense mutation, Genodermatosis, Molecular Biology, Sanger sequencing, Mutation, Intrafamilial variability, Rosai–Dorfman disease, medicine.disease, Human genetics, Histiocytosis, symbols, Medicine, Molecular Medicine, Histiocytosis, Sinus, Primary Research

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea7cff196f97f8f7abd0ec088005bbe1Test
https://doi.org/10.1186/s40246-021-00362-zTest

المؤلفون: Victoria Polar Córdoba, Nélida Aviles Alfaro, Milana Trubnykova, Katherine Joyce Ramos Diaz, Hugo Hernán Abarca Barriga

المصدر: Revista chilena de pediatría v.87 n.6 2016
SciELO Chile
CONICYT Chile
instacron:CONICYT

مصطلحات موضوعية: 0301 basic medicine, Hypertrichosis, medicine.medical_specialty, Pathology, Gen SLC29A3, SLC29A3 gene, H syndrome, Genetic counseling, Disease, 030105 genetics & heredity, Hyperpigmentation with hypertrichosis, Short stature, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Síndrome H, Medicine, Pediatrics, Perinatology, and Child Health, business.industry, Genetic disorder, Hiperpigmentación con hipertricosis, medicine.disease, Dermatology, Hyperpigmentation, Testicular tumours, Sensorineural hearing loss, Tumoraciones testiculares, Pediatrics, Perinatology and Child Health, Histopathology, medicine.symptom, business, Hipoacusia

وصف الملف: text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccc526135f7f4b658125f562e6bf4ac1Test
https://doi.org/10.1016/j.rchipe.2016.03.006Test

المؤلفون: Jaouadi, Hager, Zaouak, Anissa, Sellami, Khadija, Messaoud, Olfa, Chargui, Mariem, Hammami, Houda, Jones, Meriem, Jouini, Raja, Chadli Debbiche, Achraf, Chraiet, Karima, Fenniche, Sami, Mrad, Ridha, Mokni, Mourad, Turki, Hamida, Benkhalifa, Rym, Abdelhak, Sonia

المساهمون: Laboratoire de Génomique Biomédicale et Oncogénétique - Biomedical Genomics and Oncogenetics Laboratory (LR11IPT05), Université de Tunis El Manar (UTM)-Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Hôpital Habib Thameur Tunis, Hedi Chaker Hospital Sfax, Hôpital Charles Nicolle Tunis, Hôpital régional Taher Maamouri Nabeul, Hôpital La Rabta Tunis, Laboratoire des Venins et Biomolécules Thérapeutiques - Laboratory of Venoms and Therapeutic Biomolecules (LR11IPT08), Institut Pasteur de Tunis, This work was supported by the Tunisian Ministry of Public Health, The Tunisian Ministry of Higher Education and Scientific Research (LR16IPT05).

المصدر: ISSN: 0385-2407.

مصطلحات موضوعية: H syndrome, hyperpigmentation, novel frame-shift mutation, SLC29A3 gene, Tunisian patients, MESH: Adult, MESH: Child, Preschool, MESH: Male, MESH: Nucleoside Transport Proteins, MESH: Pedigree, MESH: Rare Diseases, MESH: Skin, MESH: Tunisia, MESH: Young Adult, MESH: Contracture, MESH: Exons, MESH: Female, MESH: Frameshift Mutation, MESH: Genetic Testing, MESH: Hearing Loss, Sensorineural, MESH: Histiocytosis, MESH: Humans, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29808591; pasteur-03550642; https://riip.hal.science/pasteur-03550642Test; PUBMED: 29808591

الإتاحة: https://doi.org/10.1111/1346-8138.14359Test
https://riip.hal.science/pasteur-03550642Test

المؤلفون: Abarca Barrig, Hugo Hernán, Trubnykova, Milana, Polar Córdoba, Victoria, Ramos Diaz, Katherine Joyce, Aviles Alfaro, Nélida

المصدر: Revista chilena de pediatría, Volume: 87, Issue: 6, Pages: 494-499, Published: DEC 2016

مصطلحات موضوعية: Testicular tumours, Sensorineural hearing loss, Gen SLC29A3, SLC29A3 gene, H syndrome, Tumoraciones testiculares, Síndrome H, Hiperpigmentación con hipertricosis, Hipoacusia, Hyperpigmentation with hypertrichosis

وصف الملف: text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______614::879f4b4bcbc20edd1ef81a5c100a1e6dTest
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0370-41062016000600010&lng=en&tlng=enTest

المؤلفون: Spiegel, Ronen, Cliffe, Simon T., Buckley, Michael F., Crow, Yanick J., Urquhart, Jill, Horovitz, Yoseph, Tenenbaum-Rakover, Yardena, Newman, William G., Donnai, Dian, Shalev, Stavit A.

المصدر: Spiegel , R , Cliffe , S T , Buckley , M F , Crow , Y J , Urquhart , J , Horovitz , Y , Tenenbaum-Rakover , Y , Newman , W G , Donnai , D & Shalev , S A 2010 , ' Expanding the clinical spectrum of SLC29A3 gene defects ' , European journal of medical genetics , vol. 53 , no. 5 , pp. 309-313 . https://doi.org/10.1016/j.ejmg.2010.06.012Test

مصطلحات موضوعية: Autosomal recessive, Diabetes mellitus, Hyperpigmentation, Hypertrichosis, SLC29A3 gene

الإتاحة: https://doi.org/10.1016/j.ejmg.2010.06.012Test
https://research.manchester.ac.uk/en/publications/801d0e38-35d1-4d6c-92d4-d4e53d672736Test