المؤلفون: Zheng J; Department of Pediatrics, The First People's Hospital of Yunnan Province, 157 Jinbi Road, Xishan District, Kunming, 650032, Yunnan Province, China.; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China., Gu M; Department of Pediatrics, The First People's Hospital of Yunnan Province, 157 Jinbi Road, Xishan District, Kunming, 650032, Yunnan Province, China.; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China., Xiao S; Department of Pediatrics, The First People's Hospital of Yunnan Province, 157 Jinbi Road, Xishan District, Kunming, 650032, Yunnan Province, China.; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China., Li C; Department of Pediatrics, The First People's Hospital of Yunnan Province, 157 Jinbi Road, Xishan District, Kunming, 650032, Yunnan Province, China.; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China., Mi H; Department of Pediatrics, The First People's Hospital of Yunnan Province, 157 Jinbi Road, Xishan District, Kunming, 650032, Yunnan Province, China.; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China., Xu X; Department of Pediatrics, The First People's Hospital of Yunnan Province, 157 Jinbi Road, Xishan District, Kunming, 650032, Yunnan Province, China. laoshu_008@163.com.; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China. laoshu_008@163.com.

المصدر: BMC pediatrics [BMC Pediatr] 2024 May 06; Vol. 24 (1), pp. 309. Date of Electronic Publication: 2024 May 06.

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

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: Mutation, Missense* , Abnormalities, Multiple*/genetics , Carrier Proteins*/genetics , Hand Deformities, Congenital* , Nails, Malformed*, Humans ; Female ; Infant, Newborn ; Nuclear Proteins/genetics ; Intellectual Disability/genetics ; Craniofacial Abnormalities/genetics ; Craniofacial Abnormalities/complications ; Clubfoot/genetics ; Phenotype ; Heart Defects, Congenital/genetics ; Heart Defects, Congenital/complications ; Degrons

SCR Disease Name: Schinzel-Giedion syndrome

المؤلفون: Perrin C; Dermatologists, Laboratoire Central d'Anatomie Pathologique, Nice University Hospital, University of Côte d'Azur (UCA), Nice, France.; Nail's Dermatology Consultations, Cannes, France., Coutts M; Department of Cellular Pathology, Maidstone Hospital, Kent, United Kingdom; and., Boukari F; Department of Dermatology, Nice University Hospital, University of Côte d'Azur (UCA), Nice, France., Ambrosetti D; Dermatologists, Laboratoire Central d'Anatomie Pathologique, Nice University Hospital, University of Côte d'Azur (UCA), Nice, France.

المصدر: The American Journal of dermatopathology [Am J Dermatopathol] 2024 May 01; Vol. 46 (5), pp. 259-270. Date of Electronic Publication: 2024 Mar 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 7911005 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-0311 (Electronic) Linking ISSN: 01931091 NLM ISO Abbreviation: Am J Dermatopathol Subsets: MEDLINE

مواضيع طبية MeSH: Skin Neoplasms*/pathology , Nail Diseases*/diagnosis , Nail Diseases*/pathology , Acanthoma*/pathology , Nails, Malformed*/pathology , Carcinoma, Squamous Cell*/diagnosis, Humans ; Retrospective Studies ; Diagnosis, Differential ; Dermoscopy

المؤلفون: Chen D; Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China.; Key Laboratory of Genetic and Developmental Disorders of Zhejiang Province, Hangzhou, China., Su J; Department of Stomatology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China., Huang X; Shanghai Key Laboratory of Maternal Fetal Medicine, Clinical and Translational Research Center, Shanghai First Maternity and Infant Hospital, School of Medicine, Shanghai Institute of Maternal-Fetal Medicine and Gynecologic Oncology, Tongji University, Shanghai, 201204, China., Chen H; Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China., Jiang T; Department of Neurology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China., Zhi C; Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China.; Key Laboratory of Genetic and Developmental Disorders of Zhejiang Province, Hangzhou, China., Zhou Z; Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China.; Key Laboratory of Genetic and Developmental Disorders of Zhejiang Province, Hangzhou, China., Zhang B; Shanghai Key Laboratory of Maternal Fetal Medicine, Clinical and Translational Research Center, Shanghai First Maternity and Infant Hospital, School of Medicine, Shanghai Institute of Maternal-Fetal Medicine and Gynecologic Oncology, Tongji University, Shanghai, 201204, China., Yu L; Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China. yulan20@zju.edu.cn., Jiang X; Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China. JiangGenetics@126.com.; Key Laboratory of Genetic and Developmental Disorders of Zhejiang Province, Hangzhou, China. JiangGenetics@126.com.

المصدر: Human cell [Hum Cell] 2024 May; Vol. 37 (3), pp. 832-839. Date of Electronic Publication: 2024 Feb 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Japan NLM ID: 8912329 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1749-0774 (Electronic) Linking ISSN: 09147470 NLM ISO Abbreviation: Hum Cell Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/genetics , Induced Pluripotent Stem Cells* , Abnormalities, Multiple*/genetics , Nails, Malformed* , Craniofacial Abnormalities* , Fibromatosis, Gingival* , Hand Deformities, Congenital*, Hallux/*abnormalities , Thumb/*abnormalities, Female ; Humans ; Mutation ; Ether-A-Go-Go Potassium Channels/genetics

SCR Disease Name: Temple-Baraitser Syndrome; Zimmerman Laband syndrome

المؤلفون: Nahmani L; Department of Pediatric Orthopedics, Armand Trousseau Hospital - Sorbonne University, 26 Avenue du Dr Arnold Netter, 75012 Paris, France., Fitoussi F; Department of Pediatric Orthopedics, Armand Trousseau Hospital - Sorbonne University, 26 Avenue du Dr Arnold Netter, 75012 Paris, France. Electronic address: franck.fitoussi@aphp.fr.

المصدر: Hand surgery & rehabilitation [Hand Surg Rehabil] 2024 Apr; Vol. 43S, pp. 101527.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Elsevier Masson SAS Country of Publication: France NLM ID: 101681801 Publication Model: Print Cited Medium: Internet ISSN: 2468-1210 (Electronic) Linking ISSN: 24681210 NLM ISO Abbreviation: Hand Surg Rehabil Subsets: MEDLINE

مواضيع طبية MeSH: Nails, Malformed*, Humans ; Nail Diseases/congenital ; Nail Diseases/surgery ; Ectodermal Dysplasia/surgery ; Ectodermal Dysplasia/diagnosis

المؤلفون: Poumellec MA; Clinique Saint-François, 10 Boulevard Pasteur, 06000 Nice, France. Electronic address: secretariat.drpoumellec@gmail.com., Camuzard O; CHU de Nice (Institut Universitaire et Locomoteur), 30 Voie Romaine, 06000 Nice, France. Electronic address: camuzard.olivier@hotmail.fr., Dumontier C; Centre de la Main, Clinique les Eaux Claires, ZAC Moudong Sud, 97122 Baie-Mahault, Guadeloupe, France. Electronic address: dumontierchristian@mac.com.

المصدر: Hand surgery & rehabilitation [Hand Surg Rehabil] 2024 Apr; Vol. 43S, pp. 101649. Date of Electronic Publication: 2024 Jan 26.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Elsevier Masson SAS Country of Publication: France NLM ID: 101681801 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2468-1210 (Electronic) Linking ISSN: 24681210 NLM ISO Abbreviation: Hand Surg Rehabil Subsets: MEDLINE

مواضيع طبية MeSH: Surgical Flaps* , Nails, Malformed*/surgery , Amputation, Traumatic*/surgery, Humans ; Finger Injuries/surgery ; Toes/surgery ; Plastic Surgery Procedures/methods

المؤلفون: Mathews I; Department of Dermatology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.; Department of Dermatology, AIIMS, Patna, India., Wagh S; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India., Baby A; Department of Dermatology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India., Chandrashekar L; Department of Dermatology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India., Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.

المصدر: Clinical and experimental dermatology [Clin Exp Dermatol] 2024 Mar 21; Vol. 49 (4), pp. 437-440.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 7606847 Publication Model: Print Cited Medium: Internet ISSN: 1365-2230 (Electronic) Linking ISSN: 03076938 NLM ISO Abbreviation: Clin Exp Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Ectodermal Dysplasia* , Nails, Malformed*, Humans ; India ; DNA Helicases

SCR Disease Name: Basan syndrome

المؤلفون: Kassem R; Department of Dermatology, Sheba Medical Center, Tel-Hashomer, Ramat-Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Gupta AK; Mediprobe Research Inc., London, Ontario, Canada.; Division of Dermatology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada; agupta@mediproberesearch.com., Bamimore MA; Mediprobe Research Inc., London, Ontario, Canada., Talukder M; Mediprobe Research Inc., London, Ontario, Canada.; School of Pharmacy, BRAC University, Dhaka, Bangladesh., Shemer A; Department of Dermatology, Sheba Medical Center, Tel-Hashomer, Ramat-Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Magal L; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Lyakhovitsky A; Department of Dermatology, Sheba Medical Center, Tel-Hashomer, Ramat-Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Daniel R; University of Mississippi Medical Center, Jackson, MS.; Department of Dermatology, University of Alabama, Birmingham, AL., Kaplan B; Department of Dermatology, Adelson School of Medicine, Ariel University, Ariel, Israel., Galili E; Department of Dermatology, Sheba Medical Center, Tel-Hashomer, Ramat-Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

المصدر: Skinmed [Skinmed] 2024 Mar 18; Vol. 22 (1), pp. 35-39. Date of Electronic Publication: 2024 Mar 18 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Pulse Marketing & Communications Country of Publication: United States NLM ID: 101168327 Publication Model: eCollection Cited Medium: Internet ISSN: 1751-7125 (Electronic) Linking ISSN: 15409740 NLM ISO Abbreviation: Skinmed Subsets: MEDLINE

مواضيع طبية MeSH: Psoriasis*/drug therapy , Nail Diseases*/drug therapy , Nails, Malformed*, Humans ; Methotrexate/therapeutic use ; Nails ; Methylprednisolone Acetate ; Cohort Studies ; Quality of Life ; Severity of Illness Index

المؤلفون: Zaias N; Greater Miami Skin and Laser Center, Miami Beach, FL; nardozaias@aol.com.

المصدر: Skinmed [Skinmed] 2024 Mar 18; Vol. 22 (1), pp. 41-47. Date of Electronic Publication: 2024 Mar 18 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Pulse Marketing & Communications Country of Publication: United States NLM ID: 101168327 Publication Model: eCollection Cited Medium: Internet ISSN: 1751-7125 (Electronic) Linking ISSN: 15409740 NLM ISO Abbreviation: Skinmed Subsets: MEDLINE

مواضيع طبية MeSH: Nail Diseases* , Skin Neoplasms* , Nails, Malformed*, Adult ; Humans ; Nails ; Fingers

المؤلفون: Zuo B; Department of Otorhinolaryngology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China., Wang LL; Department of Otorhinolaryngology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China., Mao L; Precision Medicine Center, Academy of Medical Sciences, Zhengzhou University, Zhengzhou 450052, China., Xu GE; Precision Medicine Center, Academy of Medical Sciences, Zhengzhou University, Zhengzhou 450052, China., Sun SP; Department of Otorhinolaryngology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China., Lu W; Department of Otorhinolaryngology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.

المصدر: Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery [Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi] 2024 Mar 07; Vol. 59 (3), pp. 249-252.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Zhonghua yi xue hui za zhi she Country of Publication: China NLM ID: 101247574 Publication Model: Print Cited Medium: Print ISSN: 1673-0860 (Print) Linking ISSN: 16730860 NLM ISO Abbreviation: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Amelogenesis Imperfecta*/genetics , Hearing Loss, Sensorineural*/genetics , Nails, Malformed*, Humans ; Phenotype ; Mutation

SCR Disease Name: Deafness enamel hypoplasia nail defects

المؤلفون: Lohray R; School of Medicine, Baylor College of Medicine, Houston, Texas, USA., Hogan B; Texas Children's Hospital, Houston, Texas, USA., Metry D; Texas Children's Hospital, Houston, Texas, USA.; Department of Dermatology, Baylor College of Medicine, Houston, Texas, USA.

المصدر: Pediatric dermatology [Pediatr Dermatol] 2024 Mar-Apr; Vol. 41 (2), pp. 328-330. Date of Electronic Publication: 2023 Oct 10.

نوع المنشور: Journal Article

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: Nails, Malformed*/diagnosis , Nail Diseases*/diagnosis, Humans ; Nails ; Fingers