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1دورية أكاديمية
المؤلفون: Saeki N; Department of Tissue and Developmental Biology, Osaka University Graduate School of Dentistry, Yamada-oka 1-8, Suita, Osaka 565-0871, Japan.; Department of Special Needs Dentistry, Osaka University Graduate School of Dentistry, Yamada-oka 1-8, Suita, Osaka 565-0871, Japan., Inui-Yamamoto C; Department of Tissue and Developmental Biology, Osaka University Graduate School of Dentistry, Yamada-oka 1-8, Suita, Osaka 565-0871, Japan., Ikeda Y; Department of Tissue and Developmental Biology, Osaka University Graduate School of Dentistry, Yamada-oka 1-8, Suita, Osaka 565-0871, Japan., Kanai R; Department of Tissue and Developmental Biology, Osaka University Graduate School of Dentistry, Yamada-oka 1-8, Suita, Osaka 565-0871, Japan.; Department of Fixed Prosthodontics and Orofacial Function, Osaka University Graduate School of Dentistry, Yamada-oka 1-8, Suita, Osaka 565-0871, Japan., Hata K; Department of Molecular and Cellular Biochemistry, Osaka University Graduate School of Dentistry, Yamada-oka 1-8, Suita, Osaka 565-0871, Japan., Itoh S; Department of Restorative Dentistry and Endodontology, Osaka University Graduate School of Dentistry, Yamada-oka 1-8, Suita, Osaka 565-0871, Japan., Inubushi T; Department of Orthodontics and Dentofacial Orthopedics, Osaka University Graduate School of Dentistry, Yamada-oka 1-8, Suita, Osaka 565-0871, Japan., Akiyama S; Department of Special Needs Dentistry, Osaka University Graduate School of Dentistry, Yamada-oka 1-8, Suita, Osaka 565-0871, Japan., Ohba S; Department of Tissue and Developmental Biology, Osaka University Graduate School of Dentistry, Yamada-oka 1-8, Suita, Osaka 565-0871, Japan., Abe M; Department of Tissue and Developmental Biology, Osaka University Graduate School of Dentistry, Yamada-oka 1-8, Suita, Osaka 565-0871, Japan.
المصدر: Human molecular genetics [Hum Mol Genet] 2024 Sep 03; Vol. 33 (18), pp. 1618-1629.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
مواضيع طبية MeSH: Langer-Giedion Syndrome*/genetics , Langer-Giedion Syndrome*/pathology , Repressor Proteins*/genetics , Repressor Proteins*/metabolism , DNA-Binding Proteins*/genetics , DNA-Binding Proteins*/metabolism , Nose*/abnormalities , Nose*/pathology , Hair Diseases*/genetics , Hair Diseases*/pathology , Mice, Knockout*, Animals ; Mice ; Transcription Factors/genetics ; Transcription Factors/metabolism ; Disease Models, Animal ; Humans ; Fingers/abnormalities ; Regulatory Sequences, Nucleic Acid/genetics ; Growth Disorders/genetics ; Growth Disorders/pathology ; Phenotype
SCR Disease Name: Trichorhinophalangeal Syndrome, Type I
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2دورية أكاديمية
المؤلفون: Ellison E; From the Geisinger Commonwealth School of Medicine, Scranton, PA (Ms. E. Ellison, Mr. Grampp, Mr. S. Ellison); the Department of Pediatric Genetics, Geisinger Medical Center, Danville, PA (Dr. A. Seeley); and the Department of Orthopaedic Surgery, Geisinger Medical Center, Danville, PA (Dr. M. Seeley)., Grampp SJ, Ellison S, Seeley A, Seeley M
المصدر: Journal of the American Academy of Orthopaedic Surgeons. Global research & reviews [J Am Acad Orthop Surg Glob Res Rev] 2024 Aug 19; Vol. 8 (8). Date of Electronic Publication: 2024 Aug 19 (Print Publication: 2024).
نوع المنشور: Systematic Review; Journal Article
بيانات الدورية: Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 101724868 Publication Model: eCollection Cited Medium: Internet ISSN: 2474-7661 (Electronic) Linking ISSN: 24747661 NLM ISO Abbreviation: J Am Acad Orthop Surg Glob Res Rev Subsets: MEDLINE
مواضيع طبية MeSH: Langer-Giedion Syndrome*/genetics, Humans ; Hair Diseases/surgery ; Hair Diseases/therapy ; Nose/abnormalities ; Nose/surgery ; Fingers/abnormalities ; Fingers/surgery ; Child ; Adolescent
SCR Disease Name: Trichorhinophalangeal Syndrome, Type I
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3دورية أكاديمية
المؤلفون: Herlin LK; Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark. Electronic address: laujoerg@rm.dk., Herlin MK; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Blechingberg J; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Rønholt K; Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark., Graversen L; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Schmidt SAJ; Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Epidemiology, Aarhus University Hospital, Aarhus, Denmark., Jørgensen MW; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Hellfritzsch MB; Department of Radiology, Aarhus University Hospital, Aarhus, Denmark., Hald JD; Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark; Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark., Beck-Nielsen SS; Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark., Gjørup H; Centre for Oral Health in Rare Diseases, Department of Dental and Maxillofacial Surgery, Aarhus University Hospital, Aarhus, Denmark., Andersen BN; Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark., Gregersen PA; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark; Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark., Sommerlund M; Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
المصدر: European journal of medical genetics [Eur J Med Genet] 2024 Jun; Vol. 69, pp. 104937. Date of Electronic Publication: 2024 Apr 02.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
مواضيع طبية MeSH: DNA-Binding Proteins*/genetics , Langer-Giedion Syndrome*/genetics , Langer-Giedion Syndrome*/pathology , Repressor Proteins*/genetics , Transcription Factors*/genetics, Adolescent ; Child ; Female ; Humans ; Male ; Fingers/abnormalities ; Hair Diseases ; Nose/abnormalities ; Phenotype
SCR Disease Name: Trichorhinophalangeal Syndrome, Type I
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4دورية أكاديمية
المؤلفون: Yan Y; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China, 875460759@qq.com., Huang S; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China., Huang L; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China., Zhang J; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China., Li S; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China., Zhang C; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China., Luo X; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
المصدر: Hormone research in paediatrics [Horm Res Paediatr] 2024; Vol. 97 (1), pp. 28-39. Date of Electronic Publication: 2023 Mar 29.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Karger Country of Publication: Switzerland NLM ID: 101525157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1663-2826 (Electronic) Linking ISSN: 16632818 NLM ISO Abbreviation: Horm Res Paediatr Subsets: MEDLINE
مواضيع طبية MeSH: DNA-Binding Proteins*/genetics , Langer-Giedion Syndrome*/drug therapy , Langer-Giedion Syndrome*/genetics , Langer-Giedion Syndrome*/pathology , Hair Diseases*, Fingers/*abnormalities , Nose/*abnormalities, Male ; Humans ; Repressor Proteins/genetics ; Syndrome ; Growth Hormone ; Molecular Biology ; China
SCR Disease Name: Trichorhinophalangeal Syndrome, Type I
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5تقرير
المؤلفون: Choi M; Division of Pediatric and Adolescent Dermatology, Rady Children's Hospital, San Diego, California, USA.; Department of Dermatology, Ilsan Paik Hospital, Inje University College of Medicine, Goyang, Korea., Han A; Division of Pediatric and Adolescent Dermatology, Rady Children's Hospital, San Diego, California, USA., Eichenfield LF; Division of Pediatric and Adolescent Dermatology, Rady Children's Hospital, San Diego, California, USA.; Department of Dermatology, University of California San Diego School of Medicine, San Diego, California, USA.; Department of Pediatrics, University of California San Diego School of Medicine, San Diego, California, USA.
المصدر: Pediatric dermatology [Pediatr Dermatol] 2024 Mar-Apr; Vol. 41 (2), pp. 366-368. Date of Electronic Publication: 2024 Jan 09.
نوع المنشور: Case Reports; Letter
بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 8406799 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-1470 (Electronic) Linking ISSN: 07368046 NLM ISO Abbreviation: Pediatr Dermatol Subsets: MEDLINE
مواضيع طبية MeSH: Minoxidil*/therapeutic use , Quality of Life* , Hair Diseases* , Langer-Giedion Syndrome*, Fingers/*abnormalities , Nose/*abnormalities, Female ; Humans ; Child ; Hair ; Alopecia/drug therapy ; Administration, Topical ; Treatment Outcome
SCR Disease Name: Trichorhinophalangeal Syndrome, Type I
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6دورية أكاديمية
المؤلفون: Salem A; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA. Electronic address: as7027@cumc.columbia.edu., Wu Y; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA., Albarracin CT; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA., Middleton LP; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA., Kalhor N; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA., Peng Y; Department of Pathology, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Huang X; Department of Pathology, The University of Alabama at Birmingham, Birmingham, AL 35294, USA., Aung PP; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA., Chen H; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA., Sahin AA; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA., Ding Q; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
المصدر: Human pathology [Hum Pathol] 2024 Mar; Vol. 145, pp. 42-47. Date of Electronic Publication: 2024 Jan 21.
نوع المنشور: Comparative Study; Journal Article
بيانات الدورية: Publisher: W B Saunders Country of Publication: United States NLM ID: 9421547 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-8392 (Electronic) Linking ISSN: 00468177 NLM ISO Abbreviation: Hum Pathol Subsets: MEDLINE
مواضيع طبية MeSH: Adenoids*/metabolism , Adenoids*/pathology , Breast Neoplasms*/pathology , Carcinoma* , Carcinoma, Acinar Cell* , Carcinoma, Adenoid Cystic*/pathology , Fingers*/abnormalities , Hair Diseases* , Langer-Giedion Syndrome* , Nose*/abnormalities , Salivary Gland Neoplasms*/pathology , Triple Negative Breast Neoplasms*/pathology, Female ; Humans ; Biomarkers, Tumor/metabolism ; GATA3 Transcription Factor ; Repressor Proteins ; Salivary Glands/metabolism ; Salivary Glands/pathology
SCR Disease Name: Trichorhinophalangeal Syndrome, Type I
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7دورية أكاديمية
المؤلفون: Abrar M; National Center for Bioinformatics, Program of Comparative and Evolutionary Genomics, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Ali S; National Center for Bioinformatics, Program of Comparative and Evolutionary Genomics, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.; Department of Organismal Biology and Anatomy, The University of Chicago, Chicago, Illinois, USA., Hussain I; National Center for Bioinformatics, Program of Comparative and Evolutionary Genomics, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.; Center of Regenerative Medicine and Stem Cells Research, Aga Khan University Hospital, Karachi, Pakistan., Khatoon H; National Center for Bioinformatics, Program of Comparative and Evolutionary Genomics, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Batool F; National Center for Bioinformatics, Program of Comparative and Evolutionary Genomics, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Ghazanfar S; National Institute for Genomics Advanced Biotechnology, National Agriculture Research Centre (NARC), Islamabad, Pakistan., Corcoran D; Department of Genetics, Cell Biology and Development, University of Minnesota, Minneapolis, Minnesota, USA., Kawakami Y; Department of Genetics, Cell Biology and Development, University of Minnesota, Minneapolis, Minnesota, USA., Abbasi AA; National Center for Bioinformatics, Program of Comparative and Evolutionary Genomics, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
المصدر: Journal of experimental zoology. Part B, Molecular and developmental evolution [J Exp Zool B Mol Dev Evol] 2024 Mar; Vol. 342 (2), pp. 85-100. Date of Electronic Publication: 2024 Feb 18.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 101168228 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-5015 (Electronic) Linking ISSN: 15525007 NLM ISO Abbreviation: J Exp Zool B Mol Dev Evol Subsets: MEDLINE
مواضيع طبية MeSH: Zebrafish*/genetics , Zebrafish*/metabolism , Regulatory Sequences, Nucleic Acid* , Hair Diseases* , Langer-Giedion Syndrome*, Fingers/*abnormalities , Nose/*abnormalities, Animals ; Mice ; Humans ; Genome ; Base Sequence ; Gene Expression ; Mammals/genetics ; Repressor Proteins/genetics ; Repressor Proteins/metabolism
SCR Disease Name: Trichorhinophalangeal Syndrome, Type I
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8دورية أكاديمية
المؤلفون: Scott TG; Department of Biochemistry and Molecular Genetics, University of Virginia, Charlottesville, Virginia, United States of America., Sathyan KM; Center for Cell Analysis and Modeling, University of Connecticut, Farmington, Connecticut, United States of America.; Department of Genetics and Genome Sciences, University of Connecticut, Farmington, Connecticut, United States of America., Gioeli D; Department of Microbiology, Immunology, and Cancer, University of Virginia, Charlottesville, Virginia, United States of America.; Cancer Center Member, University of Virginia, Charlottesville, Virginia, United States of America., Guertin MJ; Center for Cell Analysis and Modeling, University of Connecticut, Farmington, Connecticut, United States of America.; Department of Genetics and Genome Sciences, University of Connecticut, Farmington, Connecticut, United States of America.
المصدر: PLoS genetics [PLoS Genet] 2024 Feb 20; Vol. 20 (2), pp. e1011159. Date of Electronic Publication: 2024 Feb 20 (Print Publication: 2024).
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE
مواضيع طبية MeSH: Breast Neoplasms*/genetics , Chromatin*/genetics , Fingers*/abnormalities , Hair Diseases* , Langer-Giedion Syndrome* , Nose*/abnormalities, Female ; Humans ; Estrogen Receptor alpha/genetics ; GATA Transcription Factors ; Gene Expression ; Genes, cdc ; Repressor Proteins/genetics
SCR Disease Name: Trichorhinophalangeal Syndrome, Type I
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9دورية أكاديمية
المؤلفون: Köhler CU; Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Ruhr University Bochum (IPA), Bürkle-de-la-Camp Platz 1, 44789 Bochum, Germany., Schork K; Medizinisches Proteom-Center, Medical Faculty, Ruhr-University Bochum and Medical Proteome Analysis, Center for Protein Diagnostics (PRODI), Gesundheitscampus 4, 44081 Bochum, Germany., Turewicz M; Medizinisches Proteom-Center, Medical Faculty, Ruhr-University Bochum and Medical Proteome Analysis, Center for Protein Diagnostics (PRODI), Gesundheitscampus 4, 44081 Bochum, Germany., Eisenacher M; Medizinisches Proteom-Center, Medical Faculty, Ruhr-University Bochum and Medical Proteome Analysis, Center for Protein Diagnostics (PRODI), Gesundheitscampus 4, 44081 Bochum, Germany., Roghmann F; Department of Urology, Marien Hospital Herne, University Hospital of the Ruhr University Bochum, Hölkeskampring 40, 44625 Herne, Germany., Noldus J; Department of Urology, Marien Hospital Herne, University Hospital of the Ruhr University Bochum, Hölkeskampring 40, 44625 Herne, Germany., Marcus K; Medizinisches Proteom-Center, Medical Faculty, Ruhr-University Bochum and Medical Proteome Analysis, Center for Protein Diagnostics (PRODI), Gesundheitscampus 4, 44081 Bochum, Germany., Brüning T; Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Ruhr University Bochum (IPA), Bürkle-de-la-Camp Platz 1, 44789 Bochum, Germany., Käfferlein HU; Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Ruhr University Bochum (IPA), Bürkle-de-la-Camp Platz 1, 44789 Bochum, Germany.
المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 Jan 06; Vol. 25 (2). Date of Electronic Publication: 2024 Jan 06.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
مواضيع طبية MeSH: Body Fluids* , Neoplasms* , Hair Diseases* , Langer-Giedion Syndrome*, Fingers/*abnormalities , Nose/*abnormalities, Male ; Humans ; Biomarkers, Tumor/genetics ; DNA Methylation ; Machine Learning ; DNA, Neoplasm ; Repressor Proteins
SCR Disease Name: Trichorhinophalangeal Syndrome, Type I
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10تقرير
المؤلفون: Yagasaki H; Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan. Electronic address: yagasaki@mwd.biglobe.ne.jp., Narusawa H; Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan., Watanabe D; Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan., Kobayashi K; Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan., Mitsui H; Department of Dermatology, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan., Asano Y; Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Osaka, Japan., Nagata M; Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Osaka, Japan., Yonei A; Department of Genetic Counseling, Osaka University Hospital, Osaka, Japan., Inukai T; Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.
المصدر: European journal of medical genetics [Eur J Med Genet] 2023 Dec; Vol. 66 (12), pp. 104870. Date of Electronic Publication: 2023 Oct 23.
نوع المنشور: Case Reports
بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
مواضيع طبية MeSH: DNA-Binding Proteins*/genetics , Langer-Giedion Syndrome*/genetics, Humans ; Male ; Repressor Proteins/genetics ; Transcription Factors/genetics ; Zinc
SCR Disease Name: Trichorhinophalangeal Syndrome, Type I