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

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

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

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

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

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

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

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

المؤلفون: Mégarbané A; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Beirut, Lebanon; Institut Jerome Lejeune, Paris, France. Electronic address: andre.megarbane@lau.edu.lb., Mehawej C; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Beirut, Lebanon. Electronic address: cybel.mehawej@lau.edu.lb., Mahfoud D; Department of Radiology, Medical Center - Rizk Hospital, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Lebanon. Electronic address: daniel.mahfoud@lau.edu.lb., Chouery E; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Beirut, Lebanon. Electronic address: eliane.choueiry01@lau.edu.lb., Devriendt K; Center for Human Genetics, University of Leuven (KU) and University Hospitals Leuven (UZ), Louvain, Belgium. Electronic address: koenraad.devriendt@uzleuven.be., Hijazi M; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Beirut, Lebanon. Electronic address: mariam.hijazi02@lau.edu.lb., Ryu SW; 3 Billion Inc., Seoul, Republic of Korea. Electronic address: sw.ryu@3billion.io., Kim J; 3 Billion Inc., Seoul, Republic of Korea. Electronic address: jh.kim@3billion.io., McNeill A; Sheffield Institute for Translational Neuroscience, The University of Sheffield, Sheffield, UK. Electronic address: a.mcneill@sheffield.ac.uk.

المصدر: European journal of medical genetics [Eur J Med Genet] 2024 Jun; Vol. 69, pp. 104944. Date of Electronic Publication: 2024 Apr 26.

نوع المنشور: Case Reports; 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: Phenotype* , F-Box Proteins*/genetics, Humans ; Male ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Langer-Giedion Syndrome/genetics ; Langer-Giedion Syndrome/pathology ; Nose/abnormalities ; Nose/pathology ; Fingers/abnormalities ; Fingers/pathology ; Child ; Choanal Atresia/genetics ; Choanal Atresia/pathology ; Mutation ; Hair Diseases ; Protein-Arginine N-Methyltransferases

SCR Disease Name: Trichorhinophalangeal Syndrome, Type I

المؤلفون: Ross DA; Department of Neurological Surgery, Oregon Health & Science University, Portland, Oregon, USA.; Operative Care Division, Portland Veterans Administration Medical Center, Portland, Oregon, USA., Berland S; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Helland CA; Department of Neurosurgery, Haukeland University Hospital, Bergen, Norway., Pettersson DR; Department of Radiology, Oregon Health & Science University, Portland, Oregon, USA.

المصدر: Clinical genetics [Clin Genet] 2023 Jun; Vol. 103 (6), pp. 717-719. Date of Electronic Publication: 2023 Jan 29.

نوع المنشور: Letter

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: Glioma, Subependymal* , Langer-Giedion Syndrome*/pathology, Humans ; Syndrome ; Nose ; Fingers/pathology ; Repressor Proteins

SCR Disease Name: Trichorhinophalangeal Syndrome, Type I