المؤلفون: Nuo Si, Xiaolu Meng, Zhen Zhao, Weibo Xia, Xue Zhang

المصدر: Journal of Translational Medicine, Vol 17, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Interstitial insertion, Pseudoautosomal region 1, Xq27.1 palindrome, X-linked recessive, Genu varum, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12967-019-1887-2; https://doaj.org/toc/1479-5876

URL الوصول: https://doaj.org/article/66b0b413d05a468f81abb80e90ff8221

المؤلفون: Si, Nuo^Aff1, Meng, Xiaolu^Aff1, Zhao, Zhen^Aff2, Xia, Weibo^Aff2, Zhang, Xue^Aff1

المصدر: Journal of Translational Medicine. 17(1)

المؤلفون: Xue Zhang, Weibo Xia, Xiaolu Meng, Zhen Zhao, Nuo Si

المصدر: Journal of Translational Medicine
Journal of Translational Medicine, Vol 17, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: 0301 basic medicine, Male, Interstitial insertion, Genetic Linkage, Pseudoautosomal region, lcsh:Medicine, Genes, Recessive, Biology, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Open Reading Frames, 0302 clinical medicine, Asian People, Genetic linkage, Genes, X-Linked, Primer walking, Humans, Copy-number variation, Base Pairing, Exome sequencing, Whole genome sequencing, Genetics, Pseudoautosomal Regions, Chromosomes, Human, X, Base Sequence, Research, lcsh:R, Inverted Repeat Sequences, Chromosome Mapping, General Medicine, Phenotype, Xq27.1 palindrome, Pseudoautosomal region 1, Pedigree, genomic DNA, Mutagenesis, Insertional, 030104 developmental biology, Gene Expression Regulation, Genetic Loci, 030220 oncology & carcinogenesis, X-linked recessive, Genu varum, Mutation, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5aaffb09963e2f3a0e22876b1b0de952
http://europepmc.org/articles/PMC6489244

المؤلفون: Ajlan Tükün, Bülent Hacıhamdioğlu, Kenan Delil, Merih Berberoğlu, Halil Gürhan Karabulut, Zeynep Şıklar, Hatice Ilgın Ruhi, Gönül Öcal

المساهمون: Delil, Kenan, Karabulut, Halil Gurhan, Hacihamdioglu, Bulent, Siklar, Zeynep, Berberoglu, Merih, Ocal, Gonul, Tukun, Ajlan, Ruhi, Hatice Ilgin

المصدر: Journal of Clinical Research in Pediatric Endocrinology

مصطلحات موضوعية: 0301 basic medicine, Male, Turkey, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, CHILDREN, medicine.disease_cause, Bioinformatics, 0302 clinical medicine, Endocrinology, Short Stature Homeobox Protein, Genotype, FAILURE, Child, pseudoautosomal region 1, Growth Disorders, In Situ Hybridization, Fluorescence, Sanger sequencing, Genetics, Mutation, SHOX gene, Idiopathic short stature, DEFICIENCY, symbols, Microsatellite, Female, Original Article, medicine.symptom, GROWTH-HORMONE, Adolescent, 030209 endocrinology & metabolism, PHENOTYPES, Biology, HOMEOBOX, Short stature, LERI-WEILL DYSCHONDROSTEOSIS, 03 medical and health sciences, symbols.namesake, medicine, Humans, Homeodomain Proteins, arm span-height difference, Point mutation, medicine.disease, Body Height, DELETIONS, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Microsatellite Repeats, height

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::677db235d37044aaa9b8e863afbd0f96
https://hdl.handle.net/11424/241240

المؤلفون: Inge Francois, Bert Callewaert, Sara Benito-Sanz, José Luis Gómez-Skarmeta, Ana Fernández-Miñán, Jean De Schepper, Björn Menten, Sandra Janssens, Karen E. Heath, Kathleen De Waele, Elfride De Baere, Hannah Verdin

المساهمون: Clinical sciences

المصدر: Scientific Reports
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Biblos-e Archivo. Repositorio Institucional de la UAM
instname
SCIENTIFIC REPORTS

مصطلحات موضوعية: 0301 basic medicine, Patients, Medicina, Biology, PSEUDOAUTOSOMAL REGION 1, LERI-WEILL DYSCHONDROSTEOSIS, Article, 03 medical and health sciences, Transcription (biology), medicine, Medicine and Health Sciences, IDIOPATHIC SHORT STATURE, HUMAN GENOME, Copy-number variation, Enhancer, CHROMOSOME CONFORMATION, Léri–Weill dyschondrosteosis, Gene, LANGER MESOMELIC DYSPLASIA, Genetics, Genetics defects, Multidisciplinary, TURNER-SYNDROME, TIME QUANTITATIVE PCR, medicine.disease, HOMEOBOX GENE SHOX, Chromatin, 030104 developmental biology, COPY NUMBER, CNEs, Homeobox, Human genome, SHOX

وصف الملف: application/pdf; Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee724130c5a1673c3bae17a2574ef013
https://doi.org/10.1038/srep17667

المؤلفون: Shears, Deborah J., Endris, Volker, Gokhale, David A., Dearden, Simon P., Radford, John A., Rappold, Gudrun A., Taylor, G. Malcolm

المصدر: Shears, D J, Endris, V, Gokhale, D A, Dearden, S P, Radford, J A, Rappold, G A & Taylor, G M 2003, ' Pseudoautosomal linkage of familial Hodgkin's lymphoma : Molecular analysis of a unique family with Leri-Weill dyschondrosteosis and Hodgkins lymphoma [3] ', British Journal of Haematology, vol. 121, no. 2, pp. 377-379 . https://doi.org/10.1046/j.1365-2141.2003.04258.x

مصطلحات موضوعية: Leri-Weill dyschondrosteosis, pseudoautosomal region 1 [PAR1], Familial Hodgkin's lymphoma

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3818::4639d503078ab3f037d678a4a172fe3e
http://www.scopus.com/inward/record.url?scp=0038216939&partnerID=8YFLogxK

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المؤلفون: Marisa Censani, Erica Spiegel, Edwin Guzman, Sharon E. Oberfield, Kwame Anyane-Yeboa, Ronald J. Wapner

المصدر: International Journal of Pediatric Endocrinology

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Offspring, Madelung deformity, Case Report, Single-nucleotide polymorphism, Medical sciences, Y chromosome, Homeobox genes, Short stature, Leri-Weill syndrome, Chromosomal crossover, Genetics, medicine, Genetic disorders--Diagnosis, X chromosome, Short stature homeobox gene, business.industry, Stature, Short, Genetic disorder, Crossing over (Genetics), medicine.disease, Pseudoautosomal region 1, Obstetrics, Gynecology, FOS: Biological sciences, medicine.symptom, business, SHOX

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0affb3def96e021195f3890f4f958348

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