先天性巨结肠相关疾病和综合征

万方数据万方数据万方数据先天性巨结肠相关疾病和综合征作者：曹振杰， 陈琦， CAO Zhenjie， CHEN Qi作者单位：郑州大学医学院第三临床医院小儿外科,河南郑州,450052刊名：临床儿科杂志英文刊名：Journal of Clinical Pediatrics年，卷(期)：2013,31(1)被引用次数：4次Bonne C;Bronner-Fraser M Molecular mechanisms of neural crest formation 19992.Hayes CE;Kawatu D;Mangray S Rectal suction biopsy to exclude the diagnosisof hirschsprungdisease 2012(03)3.Quedas EP;Longuini VC;Sekiya T RET haplotype,not linked to the C620R activating mutation,associated with Hirschsprung disease in a novel MEN2 family 2012(Suppl 1)4.Baral V;Chaoui A;Watanabe Y Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 22012(07)5.Sangkhathat S;Chiengkriwate P;Kusafuka T Novel mutation of Endothelin-B receptor gene in Waardenburg-Hirschsprung disease 2005(12)6.Bondurand N;Kuhlbrodt K;PingaultV A molecular analysis of the Yemenite deaf-blind hypopigmentationsyndrome:SOX10 dysfunction causes different neurocristopathies 1999(09)7.Gross A;Kunze J;Maier RF Autosomal-recessive neural crest syndrome with albinism,black lock,cell migration disorder of the neurocytes of the gut,and deafness:syndrome 1995(03)8.Mahakrishnan A;Srinivasan MS Piebaldness with Hirschsprung's disease 1980(10)9.Weinberg AG;Currarino G;Besserman AM Hirschsprung's disease and congenital deafness 1977(02)10.Weese-Mayer DE;Berry-Kravis EM;Ceccherini 1An official ATS clinical policy statement:Congenital central hypoventilation syndrome:genetic basis,diagnosis,and management 2010(06)11.Levard G;Boige N;Vitoux C Neurocristopathy.The association of Hirschsprung's disease-ganglioneuroma with autonomic nervous system dysfunction in 2 children 1989(08)12.Weese-Mayer DE;Silvestri JM;Marazita ML Congenital central hypoventilation syndrome:inheritance and relation to sudden infant death syndrome 1993(03)13.Verloes A;Elmer C;Lacombe D Ondine-Hirschsprung syndrome (Haddad syndrome).Further delineation in two cases and review of the literature 1993(01)14.Amiel J;Salomon R;Attie T Mutations of the RET-GDNF signaling pathway in Ondine's curse 1996(03)15.Bolk S;Angrist M;Xie J Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome 1996(04)16.Hayes CE;Kawatu D;Mangray S Rectal suction biopsy to exclude the diagnosis of hirschsprungdisease 2012(03)17.Merkler RG;Solish SB;Scherzer AL Meningomyelocele and Hirschprung disease:theoretical and clinical significance 1985(02)18.Clausen N;Andersson P;Tommerup N Familial occurrence of neuroblastoma,von Recklinghausen'sneurofibromatosis,Hirschsprung'sagangliosis and jaw-winking syndrome 1989(05)19.Murphy HR;Carver M J;Brooks AS Two brothers with Goldberg-Shprintzensyndrome 2006(03)20.Hurst JA;Markiewicz M;Kumar D Unknown syndrome:Hirschsprung's disease,microcephaly,and iris coloboma:a new syndrome of defective neuronal migration 1988(07)21.Halal F;Morel J The syndrome of Hirschsprung disease,microcephaly,unusual face,and mental retardation 1990(01)22.Santos H;Mateus J;Leal MJ Hirschsprung disease associated with polydactyly,unilateral renalagenesis,hypertelorism,and congenital deafness:a new autosomal recessive syndrome 1988(03)urence KM;Prosser R;Rocker I Hirschsprung's disease associated with congenital heart malformation,broad big toes,and ulnar polydactyly in sibs:a case for fetoscopy 1975(04)24.Al-Gazali LI;Donnai D;Mueller RF Hirschsprung's disease,hypoplastic nails,and minor dysmorphic features:adistinct autosomal recessive syndrome 1988(11)25.Huang T;Elias ER;Mulliken JB A new syndrome:heart defect,laryngeal anomalies,preaxialpolydactyly,and colonic aganglionosis in sibs 1999(03)26.Reynolds JF;Barber JC;Alford BA Familial Hirschsprung's disease and type D brachydactyly:a report of four affected males in two generations 1983(02)27.Toriello HV;Komar K;Lawrence C Macrocephaly,Hirschsprung disease,brachydactyly,vertebral defects,and other minor anomalies 198828.Reish O;Gorlin R J;Hordinsky M Brain anomalies,retardation of mentality and growth,ectodermaldysplasia,skeletal malformations,Hirschsprung disease,ear deformity and deafness,eye hypoplasia,cleftpalate,cryptorchidism,and kidney dysplasia/hypoplasia(BRESEK/BRESHECK):new X-linked syndrome 1997(04)29.Hall CM Werner's mesomelic dysplasia with ventricular septal defect and Hirschsprung's disease 1981(04)30.Davenport M;Taitz LS;Dickson JA The Kaufman-McKusick syndrome:another association 1989(11)31.Stone DL;Slavotinek A;Bouffard GG;Banerjee Basu-S;Baxevanis AD;Barr M;Biesecker LG Mutation of a gene encodinga putative chaperonin causes McKusick-Kaufman syndrome.[外文期刊] 2000(1)32.Slavotinek AM;Stone EM;Mykytyn K Mutations in MKKS cause Bardet-Biedl syndrome 2000(01)33.Waterham HR;Wijburg FA;Hennekam RC Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene 1998(02)34.Patterson K;Toomey KE;Chandra RS Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome 1983(03)35.Makitie O;Kaitila I Cartilage-hair hypoplasia-clinical manifestations in 108 Finnish patients 1993(03)36.Sulisalo T;Sistonen P;Hastbacka J Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis 1993(04)37.Mandel H;Brik R;Ludatscher R Congenital muscular dystrophy with neurological abnormalities:association with Hirschsprung disease 1993(01)38.Kim JJ;Armstrong DD;Fishman MA Multicore myopathy,microcephaly,aganglionosis,and short stature 1994(03)39.Mallory SB;Haynie LS;Williams ML Ichthyosis,deafness,and Hirschsprung's disease 1989(01)40.Kaplan P X linked recessive inheritance of agenesis of the corpus callosum 1983(02)41.Okamoto N;Wada Y;Goto M Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM 1997(08)1.刘震,戴育坚,王英俊经肛门入路在小儿先天性巨结肠治疗中应用研究[期刊论文]-长江大学学报（自科版）医学下旬刊2015(12)2.刘震,戴育坚,王英俊经肛门入路在小儿先天性巨结肠治疗中应用研究[期刊论文]-长江大学学报（自科版）医学下旬刊2015(02)3.刘震,戴育坚,王英俊经肛门入路在小儿先天性巨结肠治疗中应用研究[期刊论文]-长江大学学报（自科版）医学下旬刊2015(04)4.曹闯,吴江华,吴玲玲,尹玉军,麦天赋经肛门微创手术治疗小儿先天性巨结肠症40例临床疗效分析[期刊论文]-现代生物医学进展 2013(21)引用本文格式：曹振杰.陈琦.CAO Zhenjie.CHEN Qi先天性巨结肠相关疾病和综合征[期刊论文]-临床儿科杂志 2013(1)。