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在“Elsevier电子期刊”中，命中：540条，耗时：小于0.01 秒

在所有数据库中总计命中：807条

作者：Lei Liu^a ; Xiaobo Li^a ; Zhengmao Hu^b ; Xiao Mao^c ; Xiaohong Zi^a ; Kun Xia^b ; Beisha Tang^b ; ^c ; Ruxu Zhang^a ; ^{zhangruxu@vip.163.com}

关键词：IGHMBP2 ; Autosomal recessive Charcot&ndash ; Marie&ndash ; Tooth type 2S (AR-CMT2S) ; Spinal muscular atrophy with respiratory distress type I (SMARD1) ; Gene panel testing

刊名：Neuromuscular Disorders

出版年：2017

2.Boucher Neuhäuser Syndrome - A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6

作者：Jakob H. Langdahl^a ; ^d ; ^{jakob.hoegild.langdahl@rsyd.dk} ; Anja L. Frederiksen^b ; ^d ; Nina Nguyen^c ; Klaus Brusgaard^b ; ^d ; Claus B. Juhl^a

关键词：Hypogonadism ; Spinocerebellar ataxias ; Retinal dystrophies ; Phospholipases ; Genetics ; PNPLA6 mutation

刊名：European Journal of Medical Genetics

出版年：2017

3.Ryanodine receptor point mutations confer diamide insecticide resistance in tomato leafminer, Tuta absoluta (Lepidoptera: Gelechiidae)

作者：Emmanouil Roditakis^a ; ^{eroditakis@nagref.gr} ; Denise Steinbach^b ; ^c ; Gerald Moritz^c ; Emmanouil Vasakis^a ; Marianna Stavrakaki^a ; Aris Ilias^a ; Lidia Garcí ; a-Vidal^d ; Marí ; a del Rosario Martí ; nez-Aguirre^d ; Pablo Bielza^d ; Evangelia Morou^e ; Jefferson E. Silva^f ; Wellington M. Silva^f ; Ηerbert A.A. Siqueira^f ; Sofia Iqbal^g ; Bartlomiej J. Troczka^g ; Martin S. Williamson^g ; Chris Bass^h ; Anastasia Tsagkarakou^a ; John Vontas^e ; ⁱ ; Ralf Nauen^b ; ^{ralf.nauen@bayer.com}

关键词：Tuta absoluta ; Diamide resistance ; Flubendiamide ; Chlorantraniliprole ; Ryanodine receptor ; Target-site mutation

刊名：Insect Biochemistry and Molecular Biology

出版年：2017

4.Novel compound heterozygous mutations in MYO7A gene associated with autosomal recessive sensorineural hearing loss in a Chinese family

作者：Yalin Ma^a ; ^b ; ^c ; ¹ ; Yun Xiao^a ; ^b ; ¹ ; Fengguo Zhang^a ; ^b ; Yuechen Han^a ; ^b ; Jianfeng Li^a ; ^b ; Lei Xu^a ; ^b ; ^{sdphxl@126.com" class="auth_mail" title="E-mail the corresponding author} ; Xiaohui Bai^a ; ^b ; ^{sphbaixiaohui@163.com" class="auth_mail" title="E-mail the corresponding author} ; Haibo Wang^a ; ^b ; ^{wang.hb7585@hotmail.com" class="auth_mail" title="E-mail the corresponding author}

关键词：Deafness ; Autosomal recessive inheritance ; MYO7A gene ; Mutation

刊名：International Journal of Pediatric Otorhinolaryngology

出版年：2016

5.Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant)

作者：Daniel G. Bichet ; MD^a ; ^b ; ^c ; ^{daniel.bichet@umontreal.ca" class="auth_mail" title="E-mail the corresponding author} ; Detlef Bockenhauer ; MD ; PhD^d ; ^{d.bockenhauer@ucl.ac.uk" class="auth_mail" title="E-mail the corresponding author}

关键词：Nephrogenic diabetes insipidus ; X-linked nephrogenic diabetes insipidus ; Autosomal recessive nephrogenic diabetes insipidus ; AVPR2 ; AQP2 ; Dehydration ; Misfolded proteins ; Cyclic AMP

刊名：Best Practice Research Clinical Endocrinology Metabolism

出版年：2016

6.WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity

作者：Joanna Grenier ; MD¹ ; ² ; Isabelle Meunier ; MD ; PhD¹ ; ³ ; ⁴ ; Vincent Daien ; MD ; PhD² ; ⁴ ; ⁵ ; Corinne Baudoin ; BS¹ ; Franç ; ois Halloy ; MS³ ; Bé ; atrice Bocquet ; PhD³ ; ⁴ ; Catherine Blanchet ; MD¹ ; ⁶ ; Cé ; cile Delettre ; PhD³ ; ⁴ ; Etienne Esmenjaud ; MD⁷ ; Agathe Roubertie ; MD ; PhD¹ ; ⁸ ; Guy Lenaers ; PhD⁹ ; Christian P. Hamel ; MD ; PhD¹ ; ³ ; ⁴ ; ^{christian.hamel@inserm.fr" class="auth_mail" title="E-mail the corresponding author}

关键词：adWLS ; autosomal dominant Wolfram-like syndrome ; arNSOA ; autosomal recessive nonsyndromic optic atrophy ; arWS ; autosomal recessive Wolfram syndrome ; logMAR ; log10 of the minimal angle of resolution ; OA ; optic atrophy ; OCT ; optical coherence tomography ; OMIM ; Online Mendelian Inheritance in Man ; RNFL ; retinal nerve fiber layer ; SD ; spectral domain ; TD ; time domain ; VA ; visual acuity

刊名：Ophthalmology

出版年：2016

7.Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia

作者：Sarah F. Schubert^a ; ^b ; ^c ; Sabine Hoffjan^a ; ^c ; Gabriele Dekomien^a ; ^c ; ^{gabriele.dekomien@rub.de" class="auth_mail" title="E-mail the corresponding author}

关键词：Hereditary spastic paraplegia ; CYP7B1 ; PNPLA6 ; C19orf12 ; Mutational analysis

刊名：Molecular and Cellular Probes

出版年：2016

8.Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis

作者：Tassos Grammatikopoulos¹ ; ² ; ^{t.grammatikopoulos@nhs.net" class="auth_mail" title="E-mail the corresponding author} ; Melissa Sambrotta² ; Sandra Strautnieks³ ; Pierre Foskett³ ; A.S. Knisely³ ; ^&dagger ; ; Bart Wagner⁴ ; Maesha Deheragoda³ ; Chris Starling³ ; Giorgina Mieli-Vergani¹ ; ² ; Joshua Smith⁵ ; University of Washington Center for Mendelian Genomics⁵

关键词：ADPKD ; autosomal dominant polycystic kidney disease ; ARPKD ; autosomal recessive polycystic kidney disease ; ACALT ; acetylated alpha-tubulin ; BA ; biliary atresia ; Ca2+ ; calcium ; CHF ; congenital hepatic fibrosis ; DCDC2 ; doublecortin domain containing protein 2 ; DCX ; doublecortin gene family ; ERCP ; endoscopic retrograde cholangiopancreatography ; ERK ; extracellular signal-regulated kinase ; GGT ; γ-glutamyltransferase ; IFT ; intraflagellary transport system ; KCH ; King&rsquo ; s College Hospital ; LT ; liver

刊名：Journal of Hepatology

出版年：2016

9.Rhodopsin mutations are scarcely implicated in autosomal recessive retinitis pigmentosa: A preliminary study of Egyptian retinitis pigmentosa patients

作者：Reem Mebed^a ; ^{reem_mebed@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Yasser B.M. Ali^b ; Nahed Solouma^c ; Amr Eldib^d ; Mahmoud Amer^e ; Ahmed Osman^e ; ^f

关键词：Retinitis pigmentosa ; Rhodopsin mutations ; Autosomal recessive retinitis pigmentosa ; Autosomal dominant retinitis pigmentosa ; Genetic counseling ; Electroretinogram

刊名：Egyptian Journal of Medical Human Genetics

出版年：2015

10.A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family

作者：Musharraf Jelani^a ; ^b ; ^{mjelani@kau.edu.sa" class="auth_mail" title="E-mail the corresponding author} ; Changsoo Kang^c ; Hussein Sheikh Ali Mohamoud^a ; ^d ; Rayan Al-Rehaili^e ; Mona Mohammad Almramhi^a ; Rehab Serafi^f ; Huanming Yang^a ; ^g ; Jumana Yousuf Al-Aama^a ; ^h ; Muhammad Naeemⁱ ; Yaser Mohammad Alkhiary^e ; ^{yalkhiary@kau.edu.sa" class="auth_mail" title="E-mail the corresponding author}

关键词：Primary failure of tooth eruption ; Autosomal recessive ; Homozygous mutation ; PTH1R ; Consanguineous ; Saudi Arabia

刊名：Archives of Oral Biology

出版年：2016

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