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 1999

2.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 2

2012(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 hypopigmentation

syndrome: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's

neurofibromatosis,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 renal

agenesis,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:a