المؤلفون: Du H; Department of Hypertension, People's Hospital of Zhengzhou University, Henan Provincial People's Hospital, Zhengzhou, China., Gao S; First Hospital of Qingfeng, Xinxiang, China., Dong W; Department of Hypertension, Henan Provincial People's Hospital, Zhengzhou, China., Huang Q; Department of Hypertension, People's Hospital of Zhengzhou University, Henan Provincial People's Hospital, Zhengzhou, China., Qu H; Department of Hypertension, People's Hospital of Henan University, Henan Provincial People's Hospital, Zhengzhou, China., Zhang C; Department of Hypertension, People's Hospital of Henan University, Henan Provincial People's Hospital, Zhengzhou, China., Guo L; Department of Hypertension, People's Hospital of Zhengzhou University, Henan Provincial People's Hospital, Zhengzhou, China., Liu Z; Henan University of Chinese Medicine, Zhengzhou, China., Liu M; Department of Hypertension, Henan Provincial People's Hospital, Zhengzhou, China.

المصدر: Journal of clinical hypertension (Greenwich, Conn.) [J Clin Hypertens (Greenwich)] 2024 Mar; Vol. 26 (3), pp. 295-298. Date of Electronic Publication: 2024 Feb 06.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley Periodicals Inc Country of Publication: United States NLM ID: 100888554 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1751-7176 (Electronic) Linking ISSN: 15246175 NLM ISO Abbreviation: J Clin Hypertens (Greenwich) Subsets: MEDLINE

مواضيع طبية MeSH: Hypertension*/drug therapy , Hypertension*/diagnosis , Renal Insufficiency* , Brachydactyly*/diagnosis , Brachydactyly*/drug therapy, Male ; Humans ; Adolescent ; Antihypertensive Agents/therapeutic use ; Blood Pressure

المؤلفون: Fujii QS; University of California Davis School of Medicine, Sacramento, CA., Shen JJ; Section of Genomic Medicine and., Loomba LA; Section of Genomic Medicine and.

المصدر: Pediatrics in review [Pediatr Rev] 2024 Apr 01; Vol. 45 (4), pp. 234-238.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: The Academy Country of Publication: United States NLM ID: 8103046 Publication Model: Print Cited Medium: Internet ISSN: 1526-3347 (Electronic) Linking ISSN: 01919601 NLM ISO Abbreviation: Pediatr Rev Subsets: MEDLINE

مواضيع طبية MeSH: Congenital Hypothyroidism*/complications , Congenital Hypothyroidism*/diagnosis , Brachydactyly*/diagnosis , Brachydactyly*/etiology, Female ; Humans ; Child

المؤلفون: Leung AOW; School of Biomedical Sciences, The University of Hong Kong, Pokfulam, Hong Kong, China., Poon ACH; School of Biomedical Sciences, The University of Hong Kong, Pokfulam, Hong Kong, China., Wang X; School of Biomedical Sciences, The University of Hong Kong, Pokfulam, Hong Kong, China., Feng C; School of Biomedical Sciences, The University of Hong Kong, Pokfulam, Hong Kong, China.; Hebei Orthopedic Clinical Research Center, The Third Hospital of Hebei Medical University, 050051, Shijiazhuang, Hebei, China., Chen P; School of Biomedical Sciences, The University of Hong Kong, Pokfulam, Hong Kong, China.; Department of Orthopaedics Surgery and Traumatology, The University of Hong Kong -Shenzhen Hospital (HKU-SZH), Shenzhen, China., Zheng Z; School of Biomedical Sciences, The University of Hong Kong, Pokfulam, Hong Kong, China., To MK; Department of Orthopaedics Surgery and Traumatology, The University of Hong Kong -Shenzhen Hospital (HKU-SZH), Shenzhen, China.; Department of Orthopaedics and Traumatology, The University of Hong Kong, Pokfulam, Hong Kong, China., Chan WCW; School of Biomedical Sciences, The University of Hong Kong, Pokfulam, Hong Kong, China. cwilson@hku.hk.; Department of Orthopaedics Surgery and Traumatology, The University of Hong Kong -Shenzhen Hospital (HKU-SZH), Shenzhen, China. cwilson@hku.hk., Cheung M; School of Biomedical Sciences, The University of Hong Kong, Pokfulam, Hong Kong, China., Chan D; School of Biomedical Sciences, The University of Hong Kong, Pokfulam, Hong Kong, China. chand@hku.hk.

المصدر: Nature communications [Nat Commun] 2024 Mar 12; Vol. 15 (1), pp. 2229. Date of Electronic Publication: 2024 Mar 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Hedgehog Proteins*/metabolism , Brachydactyly*/genetics , Brachydactyly*/metabolism, Mice ; Animals ; Joints/metabolism ; Apoptosis

SCR Disease Name: Brachydactyly type A1

المؤلفون: Ren H; Genetic Testing Center, the Women and Children's Hospital Affiliated to Qingdao University, Qingdao, Shandong 266034, China. renhuiying7812@126.com., Zhao W, Jiang N, Li S

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 May 10; Vol. 41 (5), pp. 561-564.

نوع المنشور: English Abstract; Journal Article

بيانات الدورية: Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Brachydactyly*/genetics , Receptor Tyrosine Kinase-like Orphan Receptors*/genetics, Adult ; Female ; Humans ; Male ; China ; East Asian People/genetics ; Exome Sequencing ; Mutation ; Pedigree

المؤلفون: Hordyjewska-Kowalczyk E; Laboratory for Skeletal Dysplasia Research, Department of Human Genetics, KU Leuven, Leuven, Belgium., Wuyts W; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Edegem, Belgium., Boeckx N; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Edegem, Belgium., Verdonck A; Department of Oral Health Sciences - Orthodontics, KU Leuven, Leuven, Belgium.; Service of Dentistry, University Hospitals Leuven, Leuven, Belgium., Hendrickx G; Laboratory for Skeletal Dysplasia Research, Department of Human Genetics, KU Leuven, Leuven, Belgium., Mortier G; Laboratory for Skeletal Dysplasia Research, Department of Human Genetics, KU Leuven, Leuven, Belgium.; Centre for Human Genetics, University Hospital Leuven, Leuven, Belgium.

المصدر: Clinical genetics [Clin Genet] 2024 Apr; Vol. 105 (4), pp. 434-439. Date of Electronic Publication: 2023 Dec 18.

نوع المنشور: Review; Journal Article

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Brachydactyly* , Osteochondrodysplasias*/diagnostic imaging , Osteochondrodysplasias*/genetics , Micrognathism* , Cleidocranial Dysplasia*, Male ; Humans ; Adolescent ; Core Binding Factor Alpha 1 Subunit/genetics ; Proto-Oncogene Proteins

SCR Disease Name: Pyle disease

المؤلفون: Wang H; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, 100005, China.; Department of Orthopedics, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China., Chen X; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, 100005, China., Meng X; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, 100005, China., Cao Y; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, 100005, China., Han S; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, 100005, China., Liu K; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, 100005, China., Zhao X; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, 100005, China., Zhao X; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, 100005, China. xiulizhao@ibms.pumc.edu.cn., Zhang X; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Department of Medical Genetics, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, 100005, China. xuezhang@pumc.edu.cn.

المصدر: Bone research [Bone Res] 2024 Apr 01; Vol. 12 (1), pp. 21. Date of Electronic Publication: 2024 Apr 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: West China School of Stomatology, Sichuan University Country of Publication: China NLM ID: 101608652 Publication Model: Electronic Cited Medium: Print ISSN: 2095-4700 (Print) Linking ISSN: 20954700 NLM ISO Abbreviation: Bone Res Subsets: MEDLINE

مواضيع طبية MeSH: Brachydactyly* , Syndactyly*/genetics , Limb Deformities, Congenital*, Mice ; Humans ; Animals ; Hedgehog Proteins/genetics ; Transcription Factors/genetics

SCR Disease Name: Syndactyly, type v

المؤلفون: Sun J; Center for Reproduction and Genetics, NHC Key Laboratory of Male Reproduction and Genetics, Suzhou Municipal Hospital, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China., Yang N; Department of Pediatrics, LinShu People's Hospital, Linyi, China., Xu Z; Department of Orthopaedics, Suzhou Municipal Hospital, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China., Cheng H; Center for Reproduction and Genetics, NHC Key Laboratory of Male Reproduction and Genetics, Suzhou Municipal Hospital, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China., Zhang X; Department of Orthopaedics, Suzhou Municipal Hospital, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Feb; Vol. 12 (2), pp. e2393.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Brachydactyly*/genetics , Dwarfism*, Humans ; Codon, Nonsense ; Mutation ; Parathyroid Hormone-Related Protein/genetics

SCR Disease Name: Brachydactyly, Type E

المؤلفون: Aydin A; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.; https://ror.org/001w7jn25 Experimental and Clinical Research Center, A Cooperation Between the Max Delbrück Center for Molecular Medicine in the Helmholtz Association and Charité Universitätsmedizin, Berlin, Germany., Klenk C; Institute of Pharmacology and Toxicology, University of Würzburg, Würzburg, Germany., Nemec K; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.; Institute of Pharmacology and Toxicology, University of Würzburg, Würzburg, Germany.; Department of Structural Biology and Center of Excellence for Data-Driven Discovery, St. Jude Children's Research Hospital, Memphis, TN, USA., Işbilir A; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.; Institute of Pharmacology and Toxicology, University of Würzburg, Würzburg, Germany., Martin LM; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., Zauber H; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., Rrustemi T; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., Toka HR; https://ror.org/001w7jn25 Experimental and Clinical Research Center, A Cooperation Between the Max Delbrück Center for Molecular Medicine in the Helmholtz Association and Charité Universitätsmedizin, Berlin, Germany., Schuster H; https://ror.org/001w7jn25 Experimental and Clinical Research Center, A Cooperation Between the Max Delbrück Center for Molecular Medicine in the Helmholtz Association and Charité Universitätsmedizin, Berlin, Germany., Gong M; https://ror.org/001w7jn25 Experimental and Clinical Research Center, A Cooperation Between the Max Delbrück Center for Molecular Medicine in the Helmholtz Association and Charité Universitätsmedizin, Berlin, Germany., Stricker S; Institute of Chemistry and Biochemistry, Freie Universität Berlin, Berlin, Germany., Bock A; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.; Rudolf-Boehm-Institute of Pharmacology and Toxicology, Medical Faculty, University of Leipzig, Leipzig, Germany., Bähring S; https://ror.org/001w7jn25 Experimental and Clinical Research Center, A Cooperation Between the Max Delbrück Center for Molecular Medicine in the Helmholtz Association and Charité Universitätsmedizin, Berlin, Germany., Selbach M; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., Lohse MJ; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.; ISAR Bioscience Institute, Munich, Germany., Luft FC; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany friedrich.luft@charite.de.; https://ror.org/001w7jn25 Experimental and Clinical Research Center, A Cooperation Between the Max Delbrück Center for Molecular Medicine in the Helmholtz Association and Charité Universitätsmedizin, Berlin, Germany.

المصدر: Life science alliance [Life Sci Alliance] 2024 Feb 08; Vol. 7 (4). Date of Electronic Publication: 2024 Feb 08 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Life Science Alliance, LLC Country of Publication: United States NLM ID: 101728869 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2575-1077 (Electronic) Linking ISSN: 25751077 NLM ISO Abbreviation: Life Sci Alliance Subsets: MEDLINE

مواضيع طبية MeSH: Parathyroid Hormone-Related Protein*/genetics , Brachydactyly*/genetics, Humans ; Receptor, Parathyroid Hormone, Type 1/genetics ; Receptor, Parathyroid Hormone, Type 1/metabolism ; Metalloproteases ; ADAM Proteins

SCR Disease Name: Brachydactyly, Type E

المؤلفون: K S M; Nanavati Max Superspeciality Hospital, Mumbai, Maharashtra, India., Gupta A

المصدر: JBJS case connector [JBJS Case Connect] 2023 Oct 05; Vol. 13 (4). Date of Electronic Publication: 2023 Oct 05 (Print Publication: 2023).

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wolters Kluwer Country of Publication: United States NLM ID: 101596828 Publication Model: eCollection Cited Medium: Internet ISSN: 2160-3251 (Electronic) Linking ISSN: 21603251 NLM ISO Abbreviation: JBJS Case Connect Subsets: MEDLINE

مواضيع طبية MeSH: Myositis Ossificans*/diagnostic imaging , Hallux Valgus* , Brachydactyly*, Male ; Humans ; Child, Preschool ; Radiography ; Tomography, X-Ray Computed

المؤلفون: Díaz-González F; Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, UAM, 28046 Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE-ERN BOND), Hospital Universitario La Paz, 28046 Madrid, Spain., Sentchordi-Montané L; Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, UAM, 28046 Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE-ERN BOND), Hospital Universitario La Paz, 28046 Madrid, Spain.; Department of Pediatrics, Hospital Universitario Infanta Leonor, 28031 Madrid, Spain.; Department of Pediatrics, Universidad Complutense de Madrid, 28040 Madrid, Spain., Lucas-Castro E; Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, UAM, 28046 Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE-ERN BOND), Hospital Universitario La Paz, 28046 Madrid, Spain., Modamio-Høybjør S; Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, UAM, 28046 Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE-ERN BOND), Hospital Universitario La Paz, 28046 Madrid, Spain., Heath KE; Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, UAM, 28046 Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE-ERN BOND), Hospital Universitario La Paz, 28046 Madrid, Spain.; CIBERER, ISCIII, 28029 Madrid, Spain.

المصدر: European journal of endocrinology [Eur J Endocrinol] 2024 Jul 02; Vol. 191 (1), pp. 38-46.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Hedgehog Proteins*/genetics , Hedgehog Proteins*/metabolism, Humans ; Protein Domains/genetics ; Brachydactyly/genetics ; Dwarfism/genetics ; Mutation ; Animals ; Genetic Variation/genetics ; Body Height/genetics ; Heterozygote

SCR Disease Name: Brachydactyly type A1