المؤلفون: Daşar T; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Türkiye., Gönen HN; Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Türkiye., Kösemehmetoğlu K; Department of Pathology, Faculty of Medicine, Hacettepe University, Ankara, Türkiye., Tekşam Ö; Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Türkiye., Boduroğlu K; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Türkiye., Utine GE; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Türkiye., Şimşek Kiper PÖ; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Türkiye.

المصدر: The Turkish journal of pediatrics [Turk J Pediatr] 2024 May 23; Vol. 66 (2), pp. 205-214. Date of Electronic Publication: 2024 May 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Hacettepe Medical Center Country of Publication: Turkey NLM ID: 0417505 Publication Model: Electronic Cited Medium: Internet ISSN: 2791-6421 (Electronic) Linking ISSN: 00414301 NLM ISO Abbreviation: Turk J Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Hyaline Fibromatosis Syndrome*/genetics , Hyaline Fibromatosis Syndrome*/diagnosis, Humans ; Male ; Female ; Infant ; Child, Preschool ; Receptors, Peptide/genetics ; Turkey ; Child

المؤلفون: Owlia F; Department of Oral and Maxillofacial Medicine, School of Dentistry, Yazd Shahid Sadoughi University of Medical Sciences and Health Services, Yazd, Iran., Navabazam A; Department of Oral and Maxillofacial Surgery, School of Dentistry, Yazd Shahid Sadoughi University of Medical Sciences and Health Services, Yazd, Iran., Akhavan-Karbasi MH; Department of Oral and Maxillofacial Medicine, School of Dentistry, Yazd Shahid Sadoughi University of Medical Sciences and Health Services, Yazd, Iran., Derakhshan Barjoei MM; Dentistry student, Student Research Committee, Shahid Sadoughi University of Medical Sciences, Yazd, Iran. mmdb1378@gmail.com.; USERN Office, Shahid Sadoughi University of Medical Sciences, Yazd, Iran. mmdb1378@gmail.com.

المصدر: BMC pediatrics [BMC Pediatr] 2023 Oct 13; Vol. 23 (1), pp. 506. Date of Electronic Publication: 2023 Oct 13.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Hyaline Fibromatosis Syndrome* , Fibromatosis, Gingival*/diagnosis , Fibromatosis, Gingival*/genetics , Fibromatosis, Gingival*/pathology , Abnormalities, Multiple*/genetics , Craniofacial Abnormalities*/diagnosis, Humans ; Female ; Infant

SCR Disease Name: Zimmerman Laband syndrome

المؤلفون: Ismail MM; Pediatric Endocrinology Department, Gaafar Ibn Auf Children's Hospital, Khartoum, Sudan. mariam8ismail@gmail.com., Musa SA; Pediatric Endocrinology Department, Gaafar Ibn Auf Children's Hospital, Khartoum, Sudan.; Department of Paediatrics and Child Health, Faculty of Medicine, Al-Neelain University, Khartoum, Sudan., Hassan SS; Pediatric Endocrinology Department, Gaafar Ibn Auf Children's Hospital, Khartoum, Sudan., Abdullah MA; Pediatric Endocrinology Department, Gaafar Ibn Auf Children's Hospital, Khartoum, Sudan.; Department of Paediatrics and Child Health, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.

المصدر: Journal of medical case reports [J Med Case Rep] 2023 Jun 02; Vol. 17 (1), pp. 244. Date of Electronic Publication: 2023 Jun 02.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947 (Electronic) Linking ISSN: 17521947 NLM ISO Abbreviation: J Med Case Rep Subsets: MEDLINE

مواضيع طبية MeSH: Hyaline Fibromatosis Syndrome*/complications , Hyaline Fibromatosis Syndrome*/diagnosis , Hyaline Fibromatosis Syndrome*/genetics , Hypercalcemia*/etiology , Hypercalcemia*/genetics , Fibroma*/complications , Fibroma*/diagnosis , Fibroma*/genetics, Male ; Female ; Humans ; Syndrome ; Diagnosis, Differential ; Genetic Testing ; Receptors, Peptide/genetics

المؤلفون: Archana CA; ICAR-National Institute of Veterinary Epidemiology and Disease Informatics (NIVEDI), Bengaluru 560064, India., Sekar YS; ICAR-National Institute of Veterinary Epidemiology and Disease Informatics (NIVEDI), Bengaluru 560064, India., Suresh KP; ICAR-National Institute of Veterinary Epidemiology and Disease Informatics (NIVEDI), Bengaluru 560064, India., Subramaniam S; ICAR-National Institute on Foot and Mouth Disease, Bhubaneswar 752050, India., Sagar N; ICAR-National Institute of Veterinary Epidemiology and Disease Informatics (NIVEDI), Bengaluru 560064, India., Rani S; ICAR-National Institute of Veterinary Epidemiology and Disease Informatics (NIVEDI), Bengaluru 560064, India., Anandakumar J; ICAR-National Institute of Veterinary Epidemiology and Disease Informatics (NIVEDI), Bengaluru 560064, India., Pandey RK; Department of Medical Biochemistry and Biophysics, Karolinska Institute, 17177 Solna, Sweden., Barman NN; College of Veterinary Science, Assam Agricultural University (AAU), Guwahati 781022, India., Patil SS; ICAR-National Institute of Veterinary Epidemiology and Disease Informatics (NIVEDI), Bengaluru 560064, India.

المصدر: Genes [Genes (Basel)] 2024 Mar 28; Vol. 15 (4). Date of Electronic Publication: 2024 Mar 28.

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

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Antigens, Bacterial*/genetics , Antigens, Bacterial*/immunology , Anthrax*/microbiology , Anthrax*/genetics , Anthrax*/immunology , Receptors, Peptide*/genetics , Mutation* , Polymorphism, Single Nucleotide*, Humans ; Bacterial Toxins/genetics ; Bacillus anthracis/genetics ; Bacillus anthracis/pathogenicity ; Hyaline Fibromatosis Syndrome/genetics ; Hyaline Fibromatosis Syndrome/microbiology ; Spondylitis, Ankylosing/genetics ; Spondylitis, Ankylosing/immunology ; Spondylitis, Ankylosing/microbiology ; Disease Resistance/genetics ; Receptors, Cell Surface/genetics ; Protein Binding

المؤلفون: Zhu Y; Department of Neonatology, Children's Hospital of Fudan University, Shanghai, China., Du X; Department of Neurology, Children's Hospital of Fudan University, Shanghai, China., Sun L; Department of Rheumatism, Children's Hospital of Fudan University, Shanghai, China., Wang H; Clinical Genetic Center, Children's Hospital of Fudan University, Shanghai, China., Wang D; Department of Orthopedics, Children's Hospital of Fudan University, Shanghai, China., Wu B; Clinical Genetic Center, Children's Hospital of Fudan University, Shanghai, China.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Aug; Vol. 10 (8), pp. e1993. Date of Electronic Publication: 2022 Jun 20.

نوع المنشور: Case Reports; Journal Article; Review

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

مواضيع طبية MeSH: Hyaline Fibromatosis Syndrome*/genetics, Diarrhea ; Frameshift Mutation ; Humans ; Male ; Mutation ; Receptors, Peptide/genetics

المؤلفون: Choochuen P; Department of Biomedical Sciences and Biomedical Engineering, Faculty of Medicine, Prince of Songkla University, Hatyai, Songkhla, Thailand., Laochareonsuk W; Department of Biomedical Sciences and Biomedical Engineering, Faculty of Medicine, Prince of Songkla University, Hatyai, Songkhla, Thailand.; Translational Medicine Research Center, Faculty of Medicine, Prince of Songkla University, Hatyai, Songkhla, Thailand., Tanaanantarak P; Department of Radiology, Faculty of Medicine, Prince of Songkla University, Hatyai, Songkhla, Thailand., Kanjanapradit K; Department of Pathology, Faculty of Medicine, Prince of Songkla University, Hatyai, Songkhla, Thailand., Sangkhathat S; Translational Medicine Research Center, Faculty of Medicine, Prince of Songkla University, Hatyai, Songkhla, Thailand.; Department of Surgery, Faculty of Medicine, Prince of Songkla University, Hatyai, Songkhla, Thailand.

المصدر: The American journal of case reports [Am J Case Rep] 2022 Jun 26; Vol. 23, pp. e935921. Date of Electronic Publication: 2022 Jun 26.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: International Scientific Information, Inc Country of Publication: United States NLM ID: 101489566 Publication Model: Electronic Cited Medium: Internet ISSN: 1941-5923 (Electronic) Linking ISSN: 19415923 NLM ISO Abbreviation: Am J Case Rep Subsets: MEDLINE

مواضيع طبية MeSH: Hyaline Fibromatosis Syndrome*/diagnosis , Hyaline Fibromatosis Syndrome*/genetics, Amino Acids/genetics ; Female ; Frameshift Mutation ; Humans ; Mutation ; Receptors, Peptide/genetics

المؤلفون: Dukan R; Hand, Upper Limb, and Peripheral Nerve Surgery Service, Georges-Pompidou European Hospital, Paris, France. Electronic address: ruben.dukan@aphp.fr., Petroni G; Hand, Upper Limb, and Peripheral Nerve Surgery Service, Georges-Pompidou European Hospital, Paris, France., Bruneval P; Department of Pathology Anatomy, Georges-Pompidou European Hospital, Paris, France; Medical School, University of Paris, Paris, France., Pannier S; Pediatric Orthopedic Department, Necker Enfants Malades, Paris, France; Medical School, University of Paris, Paris, France., Masmejean EH; Hand, Upper Limb, and Peripheral Nerve Surgery Service, Georges-Pompidou European Hospital, Paris, France; Medical School, University of Paris, Paris, France; Clinique Blomet (Research Unit), Paris, France.

المصدر: The Journal of hand surgery [J Hand Surg Am] 2022 Feb; Vol. 47 (2), pp. 195.e1-195.e5. Date of Electronic Publication: 2021 Mar 14.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 7609631 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-6564 (Electronic) Linking ISSN: 03635023 NLM ISO Abbreviation: J Hand Surg Am Subsets: MEDLINE

مواضيع طبية MeSH: Fibroma* , Hyaline Fibromatosis Syndrome*/diagnosis , Hyaline Fibromatosis Syndrome*/pathology , Hyaline Fibromatosis Syndrome*/surgery , Skin Neoplasms*, Adult ; Hand/pathology ; Hand/surgery ; Humans ; Hyalin ; Male ; Pain ; Upper Extremity/pathology

المؤلفون: Morley HL; Trauma and Orthopaedics, Bradford Royal Infirmary, Bradford, UK hannah.morley1@nhs.net., Shaw DL; Trauma and Orthopaedics, Bradford Royal Infirmary, Bradford, UK., Hannant G; Trauma and Orthopaedics, Bradford Royal Infirmary, Bradford, UK.

المصدر: BMJ case reports [BMJ Case Rep] 2022 Apr 05; Vol. 15 (4). Date of Electronic Publication: 2022 Apr 05.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: MEDLINE

مواضيع طبية MeSH: Femoral Fractures*/surgery , Fracture Fixation, Intramedullary* , Hyaline Fibromatosis Syndrome*/complications, Child ; Female ; Femur ; Humans ; Infant ; Traction ; Treatment Outcome

المؤلفون: Liu Y; State Key Laboratory of Oral Diseases, National Clinical Research Center for Oral Diseases, Department of Periodontology, West China Hospital of Stomatology, Sichuan University, No.14, Section 3, Renmin South Road, Chengdu, 610041, China., Zeng X; State Key Laboratory of Oral Diseases, National Clinical Research Center for Oral Diseases, Chinese Academy of Medical Sciences Research Unit of Oral Carcinogenesis and Management, West China Hospital of Stomatology, Sichuan University, Chengdu, China., Ding Y; State Key Laboratory of Oral Diseases, National Clinical Research Center for Oral Diseases, Department of Periodontology, West China Hospital of Stomatology, Sichuan University, No.14, Section 3, Renmin South Road, Chengdu, 610041, China., Xu Y; State Key Laboratory of Oral Diseases, National Clinical Research Center for Oral Diseases, Department of Periodontology, West China Hospital of Stomatology, Sichuan University, No.14, Section 3, Renmin South Road, Chengdu, 610041, China., Duan D; State Key Laboratory of Oral Diseases, National Clinical Research Center for Oral Diseases, Department of Periodontology, West China Hospital of Stomatology, Sichuan University, No.14, Section 3, Renmin South Road, Chengdu, 610041, China. dduan@scu.edu.cn.

المصدر: BMC oral health [BMC Oral Health] 2021 Oct 09; Vol. 21 (1), pp. 508. Date of Electronic Publication: 2021 Oct 09.

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

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101088684 Publication Model: Electronic Cited Medium: Internet ISSN: 1472-6831 (Electronic) Linking ISSN: 14726831 NLM ISO Abbreviation: BMC Oral Health Subsets: MEDLINE

مواضيع طبية MeSH: Fibromatosis, Gingival*/diagnosis , Fibromatosis, Gingival*/genetics , Hyaline Fibromatosis Syndrome*/diagnosis , Hyaline Fibromatosis Syndrome*/genetics, Child ; Dentists ; Humans ; Mutation ; Professional Role ; Receptors, Peptide/genetics

المؤلفون: Song L; Department of Pathology, Dehong People's Hospital, The Affiliated Dehong Hospital of Kunming Medical University, Dehong 678400, China; Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai 200032, China., Yang J; Department of Pathology, Dehong People's Hospital, The Affiliated Dehong Hospital of Kunming Medical University, Dehong 678400, China., Liu J; Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai 200032, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China. Electronic address: Liujiahan96@163.com., Wang J; Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai 200032, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China.

المصدر: Annals of diagnostic pathology [Ann Diagn Pathol] 2021 Dec; Vol. 55, pp. 151835. Date of Electronic Publication: 2021 Sep 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: W.B. Saunders Co Country of Publication: United States NLM ID: 9800503 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-8198 (Electronic) Linking ISSN: 10929134 NLM ISO Abbreviation: Ann Diagn Pathol Subsets: MEDLINE

مواضيع طبية MeSH: Hyaline Fibromatosis Syndrome*/diagnosis , Hyaline Fibromatosis Syndrome*/pathology, Adolescent ; Adult ; Child, Preschool ; China ; Chromosome Disorders/diagnosis ; Chromosome Disorders/pathology ; Female ; Humans ; Male ; Prognosis ; Receptors, Peptide/analysis ; Receptors, Peptide/metabolism ; Skin Neoplasms/diagnosis ; Skin Neoplasms/pathology