Results 11 to 20 of about 1,225,648 (255)
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
doaj +1 more source
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. The autosomal dominant chorioretinal dysplasia - microcephaly-mental retardation syndrome, which has variability of expression, must also be ...
Tenconi R, CLEMENTI, MAURIZIO, Audino G.
openaire +3 more sources
Autosomal Dominant Partial Epilepsy with Auditory Features
Pediatric Neurology Briefs, 2009 Auditory and language processing in 17 subjects with autosomal dominant partial epilepsy with auditory features (ADPEAF) was investigated by MRI, fMRI, and MEG and compared to 26 controls, in a study at Columbia University, New York.
J Gordon Millichap
doaj +2 more sources
Autosomal Dominant Epilepsy Syndrome Linked to 2p11
Pediatric Neurology Briefs, 2002 A newly recognized autosomal dominant epilepsy syndrome with linkage to chromosome 2p11.1-q12.2 is described in an Italian pedigree of 8 patients reported from the Neurosciences Unit, Institute of Child Health and Great Ormond Street Hospital for ...
J Gordon Millichap
doaj +2 more sources
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
doaj +1 more source
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
Autosomal dominant polycystic disease # [PDF]
Hepatology, 2009 n ...
Pedrolli, Carlo, Cereda, Emanuele
openaire +3 more sources
Further genetic heterogeneity for autosomal dominant human sutural cataracts [PDF]
, 2003 A unique sutural cataract was observed in a 4-generation German family to be transmitted as an isolated autosomal, dominant trait. Since mutations in the gamma-crystallin encoding CRYG genes have previously been demonstrated to be the most frequent ...
Graw, Jochen +8 more
core +1 more source
Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts [PDF]
, 2003 Congenital cataracts are a major cause of bilateral visual impairment in childhood. We mapped the gene responsible for autosomal congenital cerulean cataracts to chromosome 2q33-35 in a four generation family of Moroccan descent. The maximum lod score (7.
Basak, A +22 more
core +1 more source
Autosomal dominant polycystic kidney disease in hemodialysis patients in southern Brazil [PDF]
, 2014 INTRODUCTION: Autosomal dominant polycystic kidney disease is the most common hereditary renal disease in humans. OBJECTIVE: To examine the prevalence, clinical and laboratory characteristics of patients with polycystic kidneys and relate disease ...
Torres, Paulo Roberto Aranha +17 more
core +1 more source