المؤلفون: Odrzywolski A., Tüysüz B., Debeer P., Souche E., Voet A., Dimitrov B., Krzesi?ska P.

مصطلحات موضوعية: Gollop–Wolfgang complex, split-hand/foot malformation, whole genome sequencing, WNT11

Relation: Genes; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.3390/genes15010129; https://hdl.handle.net/20.500.12831/19818; 15; 2-s2.0-85183110354

الاتاحة: https://doi.org/10.3390/genes15010129
https://hdl.handle.net/20.500.12831/19818

المؤلفون: Anna Sowińska-Seidler, Magdalena Socha, Anna Szoszkiewicz, Anna Materna-Kiryluk, Aleksander Jamsheer

المصدر: Frontiers in Molecular Biosciences, Vol 10 (2023)

مصطلحات موضوعية: split-hand/foot malformation type 1, ectrodactyly, 7q21.3, DLX5/6, structural variants, SYT1, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmolb.2023.1250714/full; https://doaj.org/toc/2296-889X

URL الوصول: https://doaj.org/article/c356fd9be67a45c69532cb8d09bcf961

المؤلفون: Elke de Boer, Carlo Marcelis, Kornelia Neveling, Ellen van Beusekom, Alexander Hoischen, Willemijn M. Klein, Nicole de Leeuw, Tuomo Mantere, Uirá S. Melo, Jeroen van Reeuwijk, Dominique Smeets, Malte Spielmann, Tjitske Kleefstra, Hans van Bokhoven, Lisenka E.L.M. Vissers

المصدر: HGG Advances, Vol 4, Iss 3, Pp 100200- (2023)

مصطلحات موضوعية: SOX3, X-linked split-hand/foot malformation, SHFM2, Structural variation, Whole genome sequencing, Optical genome mapping, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247723000325; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/80aa8b4ab3904f01ad8c5057d0e546e2

المؤلفون: Mingzhu Miao, Shoulian Lu, Xiao Sun, Meng Zhao, Jue Wang, Xiaotan Su, Bai Jin, Lizhou Sun

المصدر: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-9 (2022)

مصطلحات موضوعية: Split-hand/foot malformation, TP63, Missense variant, Genetic counseling, Prenatal care, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/bf264a5f79aa42edb8e105b656c7cd6e

المؤلفون: de Boer, E. (Elke), Marcelis, C. (Carlo), Neveling, K. (Kornelia), van Beusekom, E. (Ellen), Hoischen, A. (Alexander), Klein, W. M. (Willemijn M.), de Leeuw, N. (Nicole), Mantere, T. (Tuomo), Melo, U. S. (Uirá S.), van Reeuwijk, J. (Jeroen), Smeets, D. (Dominique), Spielmann, M. (Malte), Kleefstra, T. (Tjitske), van Bokhoven, H. (Hans), Vissers, L. E. (Lisenka E. L. M.)

مصطلحات موضوعية: Optical genome mapping, SHFM2, SOX3, Structural variation, Whole genome sequencing, X-linked split-hand/foot malformation

وصف الملف: application/pdf

الاتاحة: http://urn.fi/urn:nbn:fi-fe20230920133732

المؤلفون: Han, G, Chen, Z, Chen, L, Guo, R, Sun, W, Wang, B

المصدر: 14th Triennial Congress of the International Federation of Societies for Surgery of the Hand (IFSSH), 11th Triennial Congress of the International Federation of Societies for Hand Therapy (IFSHT), 11th Triennial Congress of the International Federation of Societies for Hand Therapy (IFSHT); 20190617-20190621; Berlin; DOCIFSSH19-807 /20200206/

مصطلحات موضوعية: split-hand/foot malformation, TP63, 10q24 duplication, genotype-phenotype correlation, ddc: 610

Relation: http://dx.doi.org/10.3205/19ifssh1264; http://nbn-resolving.de/urn:nbn:de:0183-19ifssh12643; http://www.egms.de/en/meetings/ifssh2019/19ifssh1264.shtml

الاتاحة: https://doi.org/10.3205/19ifssh1264
http://nbn-resolving.de/urn:nbn:de:0183-19ifssh12643
http://www.egms.de/en/meetings/ifssh2019/19ifssh1264.shtml

المؤلفون: Anna Sowińska-Seidler, Magdalena Socha, Anna Szoszkiewicz, Anna Materna-Kiryluk, Aleksander Jamsheer

مصطلحات موضوعية: Biochemistry, Molecular Biology, Structural Biology, Enzymes, Protein Trafficking, Proteomics and Intermolecular Interactions (excl. Medical Proteomics), Receptors and Membrane Biology, Signal Transduction, Structural Biology (incl. Macromolecular Modelling), Synthetic Biology, split-hand/foot malformation type 1, ectrodactyly, 7q21.3, DLX5/6, structural variants, SYT1, Baker–Gordon syndrome, whole-genome sequencing

Relation: https://figshare.com/articles/dataset/DataSheet1_A_genotype_phenotype_correlation_in_split-hand_foot_malformation_type_1_further_refinement_of_the_phenotypic_subregions_within_the_7q21_3_locus_PDF/24581499

الاتاحة: https://doi.org/10.3389/fmolb.2023.1250714.s001
https://figshare.com/articles/dataset/DataSheet1_A_genotype_phenotype_correlation_in_split-hand_foot_malformation_type_1_further_refinement_of_the_phenotypic_subregions_within_the_7q21_3_locus_PDF/24581499

المؤلفون: Albert E. Chudley, William J. Scott, Martin H. Reed, Alison M. Elliott, Jane A. Evans

المصدر: American Journal of Medical Genetics Part A. 185:2809-2814

مصطلحات موضوعية: Orthodontics, Split-Hand/Foot Malformation, Transverse plane, Terminology as Topic, Limb Deformities, Congenital, Genetics, Humans, Biology, Hand Deformities, Congenital, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64ce00b70bc33ee3eaf374d9eb7976d0
https://doi.org/10.1002/ajmg.a.62242

المؤلفون: Min Jeong Han, Sun Jun Kim, Jun Hee Shin

المصدر: Annals of Child Neurology. 29:199-201

مصطلحات موضوعية: Split-Hand/Foot Malformation, Heterotopia (medicine), Neurology, Pediatrics, Perinatology and Child Health, medicine, Subependymal zone, Neurology (clinical), Anatomy, Biology, DLX5, Gene mutation, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1cfaaf8de2e0e085ac9d764ed0bc7250
https://doi.org/10.26815/acn.2021.00472

المؤلفون: Bahubali D Gane, P Natarajan

المصدر: Journal of Family Medicine and Primary Care, Vol 5, Iss 1, Pp 168-169 (2016)

مصطلحات موضوعية: Autosomal dominant, ectodermal ridge, ectrodactyly, split-hand/foot malformation, Medicine

Relation: http://www.jfmpc.com/article.asp?issn=2249-4863;year=2016;volume=5;issue=1;spage=168;epage=169;aulast=Gane; https://doaj.org/toc/2249-4863; https://doaj.org/article/d65f112286e14d43a76a1e5cbad89c4b

الاتاحة: https://doi.org/10.4103/2249-4863.184656
https://doaj.org/article/d65f112286e14d43a76a1e5cbad89c4b

المؤلفون: Charles E. Schwartz, Yunhui Peng, Anna V. Blenda, Robert G. Best, Christopher Ronald Funk, Ekaterina Michonova, Melanie M. May, Elizabeth S Huey

المصدر: The Journal of International Medical Research
Journal of International Medical Research, Vol 48 (2020)

مصطلحات موضوعية: Models, Molecular, Leucine zipper, Medicine (General), chromosome region 7q21.3-q22.1 (chr. 7q21), Foot malformation, Protein Conformation, DNA Mutational Analysis, Limb Deformities, Congenital, Mutation, Missense, Single-nucleotide polymorphism, 030204 cardiovascular system & hematology, Split-hand/foot malformation (SHFM), Biochemistry, Polymorphism, Single Nucleotide, distal-less homeobox-5 (DLX5), Evolution, Molecular, Pre-Clinical Research Report, 03 medical and health sciences, Split-Hand/Foot Malformation, Mice, Structure-Activity Relationship, 0302 clinical medicine, R5-920, leucine zipper containing kinase AZK (ZAK), Medicine, Missense mutation, Animals, Humans, Genetic Predisposition to Disease, Gene, Alleles, Genetic Association Studies, Genetics, Mice, Knockout, business.industry, Biochemistry (medical), Cell Biology, General Medicine, MAP Kinase Kinase Kinases, distal-less homeobox-6 (DLX6), Disease Models, Animal, Amino Acid Substitution, 030220 oncology & carcinogenesis, apical ectodermal ridge (AER), Chromosome Deletion, business, Chromosomes, Human, Pair 7, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ed99970053b8a10fca02a6746bdf47a
https://pubmed.ncbi.nlm.nih.gov/32266845

المؤلفون: Ahmed Saleh Hudna, Farouk Abdulrahman Al-Qadasi, Fahd Naji Thawaba, Mohammed Ali Al-Shehab

المصدر: Journal of Clinical and Diagnostic Research, Vol 15, Iss 6, Pp SD04-SD06 (2021)

مصطلحات موضوعية: business.industry, Clinical Biochemistry, Long bone, yemen, General Medicine, Anatomy, body regions, Split-Hand/Foot Malformation, medicine.anatomical_structure, consanguinity, ectrodactyly, Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09d04090edc1f7fc3de0f3c50b59f162

المؤلفون: Nawfal Fejjal, Yun Li, Bernd Wollnik, Holger Thiele, Soukaina Guaoua, Ilham Ratbi, Janine Altmüller, Peter Nürnberg, Abdelaziz Sefiani, Siham Chafai Elalaoui

المصدر: Pan African Medical Journal; Vol. 39 No. 1 (2021)
The Pan African Medical Journal

مصطلحات موضوعية: Genetics, WTN10B gene, business.industry, Foot malformation, Genetic heterogeneity, media_common.quotation_subject, Nonsense, Nonsense mutation, Homozygous mutation, split-hand foot malformation, case report, General Medicine, Phenotype, Split-Hand/Foot Malformation, Medicine, Technology Platforms, business, Gene, Exome sequencing, media_common

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7db348e894e8f9f0f1e434d9697e760f
https://www.ajol.info/index.php/pamj/article/view/217366

المؤلفون: Muhammad Umair, Amir Hayat

المصدر: Mol Syndromol

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Ectrodactyly, Genetic inheritance, Foot malformation, Genetic heterogeneity, business.industry, Review Article, medicine.disease, Recurrence risk, Split-Hand/Foot Malformation, Skeletal disorder, Genetics, medicine, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::940ef54e43fa6c98fdccdecda2d16880
https://doi.org/10.1159/000502784

المؤلفون: Muriel Holder-Espinasse, Stéphane Guero

المصدر: Journal of Hand Surgery (European Volume). 44:80-87

مصطلحات موضوعية: 030222 orthopedics, business.industry, Limb Deformities, Congenital, Anatomy, 030230 surgery, Surgical procedures, Penetrance, Numerical digit, Tendons, Pathogenesis, 03 medical and health sciences, Split-Hand/Foot Malformation, 0302 clinical medicine, Humans, Medicine, Orthopedic Procedures, Surgery, Presentation (obstetrics), Family history, Muscle, Skeletal, business, Foot (unit)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b7e5ac91dcef6dd2b4faf85daea4b98
https://doi.org/10.1177/1753193418807375

المؤلفون: Anna Kucińska-Chahwan, Beata Nowakowska, Tomasz Roszkowski, Dominika Szczęśniak

المصدر: Taiwanese Journal of Obstetrics & Gynecology, Vol 58, Iss 4, Pp 574-576 (2019)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Ectrodactyly, Long bone, Limb Deformities, Congenital, Genetic Counseling, Gestational Age, Prenatal diagnosis, lcsh:Gynecology and obstetrics, Asymptomatic, Ultrasonography, Prenatal, Young Adult, 03 medical and health sciences, Split-Hand/Foot Malformation, Rare Diseases, 0302 clinical medicine, Pregnancy, medicine, Humans, Genetic Predisposition to Disease, lcsh:RG1-991, Comparative Genomic Hybridization, 030219 obstetrics & reproductive medicine, Tibia, business.industry, Ultrasound, Pregnancy Outcome, Obstetrics and Gynecology, medicine.disease, Penetrance, Pedigree, medicine.anatomical_structure, Female, medicine.symptom, business, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b14d561a2f2bd380f4aa51f2e2eae59
https://doi.org/10.1016/j.tjog.2019.05.026

المؤلفون: Hattan Aljaaly, Rehab Assur, Basim A. Awan, Mohammed Ashi

المصدر: International Journal of Surgery Case Reports

مصطلحات موضوعية: 0301 basic medicine, Congenital anomalies, Pediatrics, medicine.medical_specialty, business.industry, Genetic counseling, Article, Chemical exposure, 03 medical and health sciences, Split-Hand/Foot Malformation, 030104 developmental biology, 0302 clinical medicine, Split hand/foot malformation, Genetics, Normal growth, Etiology, Medicine, Surgery, Family history, business, 030217 neurology & neurosurgery, Consanguineous Marriage

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34225a34856b8f40e9b90659f36cd5db
https://doi.org/10.1016/j.ijscr.2017.12.030

المؤلفون: Nagata, Eiko, Kano, Hiroki, Kato, Fumiko, Yamaguchi, Rie, Nakashima, Shinichi, Takayama, Shinichiro, Kosaki, Rika, Tonoki, Hidefumi, Mizuno, Seiji, Watanabe, Satoshi, Yoshiura, Koh-ichiro, Kosho, Tomoki, Hasegawa, Tomonobu, Kimizuka, Mamori, Suzuki, Atsushi, Shimizu, Kenji, Ohashi, Hirofumi, Haga, Nobuhiko, Numabe, Hironao, Horii, Emiko, Nagai, Toshiro, Yoshihashi, Hiroshi, Nishimura, Gen, Toda, Tatsushi, Takada, Shuji, Yokoyama, Shigetoshi, Asahara, Hiroshi, Sano, Shinichiro, Fukami, Maki, Ikegawa, Shiro, Ogata, Tsutomu

مصطلحات موضوعية: BHLHA9, Split-hand/foot malformation, Long bone deficiency, Gollop-Wolfgang complex, Expressivity, Penetrance, Susceptibility, Japanese founder copy number gain

Relation: http://www.ojrd.com/content/9/1/125

الاتاحة: http://www.ojrd.com/content/9/1/125

المؤلفون: Morgane Stichelbout, Florence Petit, Perrine Brunelle, Tiffany Busa, Jelena Martinovic, Anne Moncla, Frédéric Frénois, Anne-Sophie Jourdain, Sylvie Manouvrier-Hanu, Juliette Dupont, Fabienne Escande

المصدر: American Journal of Medical Genetics Part A.

مصطلحات موضوعية: Male, Ectrodactyly, Polydactyly, Foot malformation, business.industry, Genetic heterogeneity, Long bone, Limb Deformities, Congenital, Anatomy, medicine.disease, Pedigree, Wnt Proteins, Split-Hand/Foot Malformation, medicine.anatomical_structure, Proto-Oncogene Proteins, Genetics, medicine, Humans, Female, Syndactyly, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faefc181ea153de0092030d3f24dc7a0
https://doi.org/10.1002/ajmg.a.61177

المؤلفون: Divya Chauhan, Alpana Singh

المصدر: JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH.

مصطلحات موضوعية: Split-Hand/Foot Malformation, business.industry, Clinical Biochemistry, Medicine, General Medicine, Anatomy, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::470fdcbe2b1f78add91b7ab87de4ea9e
https://doi.org/10.7860/jcdr/2019/38303.12490