SYNDROMIC

作品数：41被引量：38H指数：4
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相关领域：医药卫生更多>>
相关作者：郝津生王芳刘星辰郭玉芬张雪溪更多>>
相关机构：首都医科大学附属北京儿童医院兰州大学第二医院北京清华长庚医院更多>>
相关期刊：《Infectious Diseases of Poverty》《Open Journal of Obstetrics and Gynecology》《LabMed Discovery》《International Journal of Oral Science》更多>>
相关基金：国家自然科学基金北京市自然科学基金国家教育部博士点基金北京市科技新星计划更多>>
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Paediatric renal tumors:An insight into molecular characteristics,histomorphology and syndromic association
《World Journal of Nephrology》2025年第2期14-26,共13页Mousmi Agrawal Amit K Chowhan 
Paediatric renal tumors are rare and accounts for about 7%of all paediatric malignant tumors.The spectrum of paediatric renal tumors ranges from benign to malignant.Benign tumors include cystic nephroma,metanephric tu...
关键词：Genetic syndrome IMMUNOHISTOCHEMISTRY PAEDIATRIC Renal tumor BENIGN MALIGNANT Molecular characteristics 
Whole-exome sequencing identifies ECPAS as a novel potentially pathogenic gene in multiple hereditary families with nonsyndromic orofacial cleft
《Protein & Cell》2024年第10期783-789,共7页Huaxiang Zhao Wenjie Zhong Wenbin Huang Guozhu Ning Jieni Zhang Mengqi Zhang Peiqi Meng Yunfan Zhang Qian Zhang Hongping Zhu Gulibaha Maimaitili Yi Ding Weiran Li Wei Liang Zhibo Zhou Qiang Wang Feng Chen Jiuxiang Lin 
Dear Editor,Orofacial cleft(OFC),which includes cleft lip and/or palate(CL/P)and cleft palate(CP),is the most common congenital craniofacial structural disorder,with a prevalence of 1.416%。among live infants worldwid...
关键词：DIXON WHOLE SYNDROMIC 
Development and optimization of diagnostic assays for infectious diseases
《LabMed Discovery》2024年第2期70-83,共14页Marco Ciotti Eleonora Nicolai Massimo Pieri 
Laboratory medicine is an essential part of the diagnostic process,supporting clinical decisions,guiding and addressing therapy.The recent COVID-19 pandemic illustrated well the key role of laboratory medicine in the ...
关键词：Real-time PCR Syndromic panel Point of care testing(POCT) Clustered regularly interspaced short palindromic respeat(CRISPR) Next generation sequencing(NGS) Digital holographic microscopy 
Phenotypical Aspects of a Familial Syndromic Retinitis Pigmentosa
《Open Journal of Ophthalmology》2024年第2期168-173,共6页Irma Eneida Dos Santos Joseph Matar Mass Ndiaye Mariama Diambone Badji Alioune Abdoulaye Ndongo Gerauld Akpo Jean Pierre Diagne Gabriel Karold Mendy Mouhamed Attye Aboubacry Sadikh Sow Elhadji Amadou Ba Paule Aida Ndoye Roth 
Aim: To report a familial case of syndromic retinitis pigmentosa identified at Aristide Le Dantec Hospital in Dakar and to describe their clinical characteristics ophthalmic. Observation: We report a sibling group of ...
关键词：Retinitis Pigmentosa SYNDROMIC HEREDITY CILIOPATHY 
A Clinical Study to Assess the Effectiveness of Oral Combination Kit Therapy in Syndromic Management of Abnormal Vaginal Discharge (FEMINE Study) in Kinshasa, Democratic Republic of Congo
《Open Journal of Obstetrics and Gynecology》2024年第1期193-208,共16页Feruzi Michel Mangala Muela Andy Mbangama Di-Mosi-Nkoy Roger Wumba Ambis Joëlle Lumaya Nkongolo Freddy Muamba Tshitadi Jean Mukendi Ndombasi Neilda Lemba Otem Christian Ndesanzim Nkashama Bienvenu Kazadi Banza Jesual Lotoy Umba Adrien Tandu Mushengezi Dieudonné Sengeyi Mwimba Roger Mbungu 
Background: Vaginal discharge is one of most common and nagging problems that women face. About 20% - 25% of women who visit gynecology department complain of vaginal discharge and leucorrhoea. An orally administered ...
关键词：Oral Combination Kit Therapy Syndromic Management Abnormal Vaginal Discharge 
Rationale of Cross-Sectional Descriptive Study on Clinical Effectiveness of Oral Combination Therapy Based on Secnidazole, Azithromycin and Fluconazole in Syndromic Treatment of Abnormal Vaginal Discharge in Kinshasa/DR Congo
《Open Journal of Obstetrics and Gynecology》2023年第11期1807-1815,共9页Muela Andy Mbangama Feruzi Michel Mangala Di-Mosi-Nkoyi Roger Wumba Ambis Joelle Lumaya Nkongolo Freddy Muamba Mubalamata Eugene-Patrick Lukusa Nkashama Bienvenu Kazadi Ndombasi Nelda Lemba Banza Jésual Lotoy Oteme Christian Ndesanzim Mwimba Roger Mbungu 
Background: Vaginal discharge is one of the most common troubles faced by childbearing age women. About 20% - 25% of women who visit service of gynecology complain of vaginal discharge and leucorrhoea. Management of v...
关键词：Combination Therapy Syndromic Treatment Abnormal Vaginal Discharge 
Polydactyly:Clinical and molecular manifestations被引量：4
《World Journal of Orthopedics》2023年第1期13-22,共10页Zisis Kyriazis Panagoula Kollia Ioanna Grivea Nikolaos Stefanou Sotirios Sotiriou Zoe H Dailiana 
Polydactyly is a malformation during the development of the human limb,which is characterized by the presence of more than the normal number of fingers or toes.It is considered to be one of the most common inherited h...
关键词：POLYDACTYLY Gene SYNDROMIC NON-SYNDROMIC Preaxial Postaxial 
A novel SPINT2 missense mutation causes syndromic congenital sodium diarrhea被引量：1
《World Journal of Pediatrics》2022年第12期861-865,共5页Xian-Xu Zhang Xi Chen Wei Zhou Vasilis Caesar Mavratsas Yang-Yang Xiao Xin-Rui Tan Song-Jia Zheng Xing-Xing Zhang 
funded by the Natural Science Foundation of Hunan Province(2021JJ0137).
Congenital sodium diarrhea(CSD)is a monogenic disordercausedby specific geneticdefects that increase sodium content in the stool,resulting in intractable diarrhea.The disease was first reported by Holmberg in 1985[1]....
关键词：CONGENITAL DIARRHEA SYNDROMIC 
Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic Sdccag8 mutations
《Zoological Research》2022年第3期442-456,共15页Zhi-Lin Ren Hou-Bin Zhang Lin Li Zheng-Lin Yang Li Jiang 
supported by the Natural Science Foundation of China(81670893,82121003);Science and Technology Department of Sichuan Province(2021JDZH0031);Chinese Academy of Medical Sciences(2019-I2M-5-032)。
Mutations in serologically defined colon cancer autoantigen protein 8(SDCCAG8)were first identified in retinal ciliopathy families a decade ago with unknown function.To investigate the pathogenesis of SDCCAG8-associat...
关键词：SDCCAG8 Primary cilia Retinal ciliopathy Bardet-Biedl syndrome(BBS) Senior-L?ken syndrome(SLS) Nephronophthisis(NPHP) POLYDACTYLY 
Socio-Demographic, Clinical, and Hygiene Profile of Syndromically Managed Sexually Transmitted Diseases: A Cross Sectional Study in a Tertiary Care Center in India被引量：1
《International Journal of Clinical Medicine》2021年第12期551-569,共19页Darshi Desai Erum Khan Dinesh Rathod 
Background: Sexually transmitted diseases are one of the several major public health concerns, the burden of which is borne by low- and middle-income countries like India. Purpose: Th...
关键词：Sexually Transmitted Diseases Menstrual Hygiene SOCIO-DEMOGRAPHICS Sexually Transmitted Infections Reproductive Tract Infections Syndromic Management 
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