Results 11 to 20 of about 207,744 (307)
Dual Monogenic Cystic Disease Case Report: Autosomal Dominant Polycystic Kidney Disease and Autosomal Dominant Polycystic Liver Disease [PDF]
Clinical Case ReportsAutosomal dominant polycystic kidney disease (ADPKD) and autosomal dominant polycystic liver disease (ADPLD) are inherited cystic conditions with overlapping features but distinct genetic causes and clinical courses.
Anna Katya Brossart +4 more
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Autosomal Dominant Alternating Hemiplegia
Pediatric Neurology Briefs, 1993 The familial occurrence and autosomal dominant inheritance of alternating hemiplegia of childhood is reported from Children’s Hospital, and Massachusetts General Hospital, Harvard Medical School, Boston.
J Gordon Millichap
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Chinese clinical practice guide for autosomal dominant polycystic kidney disease
Linchuang shenzangbing zazhi, 2019 常染色体显性多囊肾病(autosomal dominant polycystic kidney disease, ADPKD)是最常见的遗传性肾病,患病率为1/400～1/1000[1]。ADPKD主要致病基因有两个,PKD1和PKD2,其突变导致疾病分别约占发病人群的85%和15%[2-3]。该病为常染色体显性遗传病,子代发病机率为50%。患者多在成年后出现双侧肾脏囊肿,随年龄增长,逐渐损害肾脏结构和功能[4 ...
Expert Committee on Clinical Practice Guidelines for Autosomal Dominant Polycystic Kidney Disease
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Autosomal Dominant Partial Epilepsies
Pediatric Neurology Briefs, 2000 The clinical, electrophysiologic, and genetic characteristics of autosomal dominant partial epilepsy were studied in 71 patients and 33 non-epileptic at-risk family members in 19 European families followed at the Hopital Universitaire de Geneve ...
J Gordon Millichap
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Autosomal Dominant Juvenile Amyotrophic LS
Pediatric Neurology Briefs, 1999 The clinical and electrodiagnostic findings in 49 affected family members and neuropathological findings from two autopsies of a Maryland kindred with autosomal dominant juvenile amyotrophic lateral sclerosis (ALS) are reported from Johns Hopkins ...
J Gordon Millichap
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Autosomal dominant microcephaly.
The Journal of Pediatrics, 1983 Haslam in his reply to a letter presenting a new family with autosomal dominant microcephaly, affirms that the number of patients with this anomaly is increasing and suggests caution in making the diagnosis.
CLEMENTI, MAURIZIO, Audino G., Tenconi R
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Autosomal dominant polycystic kidney disease: updated perspectives
Therapeutics and Clinical Risk Management, 2019 Anjay Rastogi,1 Khalid Mohammed Ameen,1 Maha Al-Baghdadi,1 Kelly Shaffer,1 Niloofar Nobakht,1 Mohammad Kamgar,1 Edgar V Lerma21Department of Medicine, Division of Nephrology, David Geffen School of Medicine, Los Angeles, CA, USA; 2Department of Medicine,
Rastogi A +6 more
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Autosomal dominant Parkinson's disease [PDF]
Parkinsonism & Related Disorders, 2012 Over the past two decades the understanding and classification of Parkinson's disease (PD) has been revolutionized by genetic research. Currently, sixteen PARK loci have been identified with autosomal dominant genes such as SNCA, and LRRK2, and autosomal
Uitti, Ryan J +7 more
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A Rare Case of Ectrodactyly Ectodermal Dysplasia and Cleft Lip Syndrome [PDF]
Journal of Clinical and Diagnostic Research, 2022 A 23-year-old female patient visited the Oral Medicine and Radiology Department with the complaint of irregularly placed upper and lower front teeth since childhood.
Kshma Rao +5 more
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Autosomal dominant polycythemia [PDF]
Blood, 1985 Abstract Two families with polycythemia inherited as an autosomal dominant trait are described. Serial hemoglobin determinations in multiple family members and RBC volume measurements in selected affected subjects documented their polycythemia.
J T, Prchal +4 more
openaire +2 more sources