[1] |
Meckel JF.Beschreibung zweier,durch sehr aehnliche,bildungsa-bweichungen entsellter Geschwister Dutsch [J].Dtsch Arch Physiol,1822:799-172.
|
[2] |
|
[3] |
Hartill V, Szymanska K, Sharif SM,et al.Meckel-gruber syndrome:an update on diagnosis,clinical management,and research advances[J]. Front Pediatr, 2017(5):244.DOI: 10.3389/fped.2017.00244.
|
[4] |
Salonen R.The Meckel syndrome:clinicopathological findings in 67 patients [J]. Am J Med Genet, 1984, 18(4):671-689.DOI: 10.1002/ajmg.1320180414.
|
[5] |
Hsia YE, Bratu M, Herbordt A.Genetics of the Meckel syndrome (dysencephalia splanchnocystica) [J].Pediatrics,1971,48(2):237-247.
|
[6] |
Fraser FC, Lytwyn A.Spectrum of anomalies in the Meckel syndrome,or:" Maybe there is a malformation syndrome with at least one constant anomaly" [J]. Am J Med Genet, 1981, 9(1):67-73.DOI: 10.1002/ajmg.1320090112.
|
[7] |
Majewski F, Stöss H, Goecke T,et al.Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome? [J]. Hum Genet, 1983, 65(2):125-133.DOI: 10.1007/bf00286648.
|
[8] |
Barisic I, Boban L, Loane M,et al.Meckel-Gruber syndrome:a population-based study on prevalence,prenatal diagnosis,clinical features,and survival in Europe [J]. Eur J Hum Genet, 2015, 23(6):746-752.DOI: 10.1038/ejhg.2014.174.
|
[9] |
Ramadani HM, Nasrat HA.Prenatal diagnosis of recurrent Meckel syndrome [J]. Int J Gynaecol Obstet, 1992, 39(4):327-332.DOI: 10.1016/0020-7292(92)90265-k.
|
[10] |
Seller MJ.Meckel syndrome and the prenatal diagnosis of neural tube defects [J]. J Med Genet, 1978, 15(6):462-465.DOI: 10.1136/jmg.15.6.462.
|
[11] |
Young ID, Rickett AB, Clarke M. High incidence of Meckel′s syndrome in Gujarati Indians [J]. J Med Genet, 1985, 22(4):301-304.DOI: 10.1136/jmg.22.4.301.
|
[12] |
Parisi MA.The molecular genetics of Joubert syndrome and related ciliopathies:the challenges of genetic and phenotypic heterogeneity[J]. Transl Sci Rare Dis, 2019, 4(1-2):25-49.DOI: 10.3233/trd-190041.
|
[13] |
Zhang M, Chang Z, Tian Y,et al.Two novel TCTN2 mutations cause Meckel-Gruber syndrome[J]. J Hum Genet, 2020, 65(11):1039-1043.DOI: 10.1038/s10038-020-0804-0.
|
[14] |
|
[15] |
|
[16] |
|
[17] |
Sepulveda W, Sebire NJ, Souka A,et al.Diagnosis of the Meckel-Gruber syndrome at eleven to fourteen weeks' gestation [J]. Am J Obstet Gynecol, 1997, 176(2):316-319.DOI: 10.1016/s0002-9378(97)70491-5.
|
[18] |
Braithwaite JM, Economides DL.First-trimester diagnosis of Meckel-Gruber syndrome by transabdominal sonography in a low-risk case[J]. Prenat Diagn, 1995, 15(12):1168-1170.DOI: 10.1002/pd.1970151215.
|
[19] |
|
[20] |
Salomon LJ, Alfirevic Z, Bilardo CM,et al.ISUOG practice guidelines:performance of first-trimester fetal ultrasound scan [J]. Ultrasound Obstet Gynecol, 2013, 41(1):102-113.DOI: 10.1002/uog.12342.
|
[21] |
Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform [J]. Bioinformatics, 2009, 25(14):1754-1760.DOI: 10.1093/bioinformatics/btp324.
|
[22] |
Van der Auwera GA, Carneiro MO, Hartl C,et al.From FastQ data to high confidence variant calls:the Genome Analysis Toolkit best practices pipeline[J]. Curr Protoc Bioinformatics, 2013, 43(1110):11.10.11-11.10.33.DOI: 10.1002/0471250953.bi1110s43.
|
[23] |
Yang H, Wang K.Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR [J]. Nat Protoc, 2015, 10(10):1556-1566.DOI: 10.1038/nprot.2015.105.
|
[24] |
Richards S, Aziz N, Bale S,et al.Standards and guidelines for the interpretation of sequence variants:a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology [J]. Genet Med, 2015, 17(5):405-424.DOI: 10.1038/gim.2015.30.
|
[25] |
Mecke S, Passarge E. Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders:the Meckel syndrome [J].Ann Genet,1971,14(2):97-103.
|
[26] |
Johnson VP, Holzwarth DR.Prenatal diagnosis of Meckel syndrome:case reports and literature review [J]. Am J Med Genet, 1984, 18(4):699-711.DOI: 10.1002/ajmg.1320180416.
|
[27] |
Nyberg DA, Hallesy D, Mahony BS,et al.Meckel-Gruber syndrome.Importance of prenatal diagnosis [J]. J Ultrasound Med, 1990, 9(12):691-696.DOI: 10.7863/jum.1990.9.12.691.
|
[28] |
Liu SS, Cheong ML, She BQ,et al.First-trimester ultrasound diagnosis of Meckel-Grüber syndrome [J]. Acta Obstet Gynecol Scand, 2006, 85(6):757-759.DOI: 10.1080/00016340600613014.
|
[29] |
Ickowicz V, Eurin D, Maugey-Laulom B,et al.Meckel-Gruber syndrome:sonography and pathology [J]. Ultrasound Obstet Gynecol, 2006, 27(3):296-300.DOI: 10.1002/uog.2708.
|
[30] |
Mougou-Zerelli S, Thomas S, Szenker E,et al.CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation [J]. Hum Mutat, 2009, 30(11):1574-1582.DOI: 10.1002/humu.21116.
|
[31] |
Barroso-Gil M, Olinger E, Ramsbottom SA,et al.Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations,tissue specific transcripts and exploring mutation specific exon skipping therapies [J]. Mol Genet Genomic Med, 2021:e1603.DOI: 10.1002/mgg3.1603.
|
[32] |
|
[33] |
|
[34] |
Tanriverdi HA, Hendrik HJ, Ertan K, et al. Meckel Gruber syndrome:a first trimester diagnosis of a recurrent case [J]. Eur J Ultrasound, 2002, 15(1-2):69-72.DOI: 10.1016/s0929-8266(02)00009-5.
|