116 related articles for article (PubMed ID: 32051522)
1. Genetic and preimplantation diagnosis of cystic kidney disease with ventriculomegaly.
Zhang L; Zhang Z; Bi X; Mao Y; Cheng Y; Zhu P; Xu S; Wang Y; Zhan X; Fan J; Yuan Y; Bi H; Wu X
J Hum Genet; 2020 May; 65(5):455-459. PubMed ID: 32051522
[TBL] [Abstract][Full Text] [Related]
2. CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.
Slavotinek A; Kaylor J; Pierce H; Cahr M; DeWard SJ; Schneidman-Duhovny D; Alsadah A; Salem F; Schmajuk G; Mehta L
Am J Hum Genet; 2015 Jan; 96(1):162-9. PubMed ID: 25557780
[TBL] [Abstract][Full Text] [Related]
3. Expansion of phenotype and genotypic data in CRB2-related syndrome.
Lamont RE; Tan WH; Innes AM; Parboosingh JS; Schneidman-Duhovny D; Rajkovic A; Pappas J; Altschwager P; DeWard S; Fulton A; Gray KJ; Krall M; Mehta L; Rodan LH; Saller DN; Steele D; Stein D; Yatsenko SA; Bernier FP; Slavotinek AM
Eur J Hum Genet; 2016 Oct; 24(10):1436-44. PubMed ID: 27004616
[TBL] [Abstract][Full Text] [Related]
4. Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency.
He WB; Tan YQ; Hu X; Li W; Xiong B; Luo KL; Gong F; Lu GX; Lin G; Du J
BMC Med Genet; 2018 Jan; 19(1):15. PubMed ID: 29368589
[TBL] [Abstract][Full Text] [Related]
5. Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?
Jaron R; Rosenfeld N; Zahdeh F; Carmi S; Beni-Adani L; Doviner V; Picard E; Segel R; Zeligson S; Carmel L; Renbaum P; Levy-Lahad E
Clin Genet; 2016 Dec; 90(6):540-544. PubMed ID: 26925547
[TBL] [Abstract][Full Text] [Related]
6. [Clinical and genetic analysis for a Joubert syndrome family with CC2D2A gene mutations].
Su Y; Xie J; Yu S; Luo H; Wu W; Xu Z
Zhonghua Er Ke Za Zhi; 2015 Jun; 53(6):431-5. PubMed ID: 26310553
[TBL] [Abstract][Full Text] [Related]
7. Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients.
Adutwum M; Hurst A; Mirzaa G; Kushner JD; Rogers C; Khalek N; Cristancho AG; Burrill N; Seifert ME; Scarano MI; Schnur RE; Slavotinek A
Clin Genet; 2023 Jan; 103(1):97-102. PubMed ID: 36071576
[TBL] [Abstract][Full Text] [Related]
8. Fetal oculocerebrorenal syndrome of Lowe associated with elevated maternal serum and amniotic fluid alpha-fetoprotein levels.
Miller RC; Wolf EJ; Gould M; Macri CJ; Charnas LR
Obstet Gynecol; 1994 Jul; 84(1):77-80. PubMed ID: 7516514
[TBL] [Abstract][Full Text] [Related]
9. Combined Preimplantation Genetic Testing for Aneuploidy and Monogenic Disease in a Mexican Family Affected by X-linked Hypohidrotic Ectodermal Dysplasia.
Piña-Aguilar RE; González-Ortega C; Calull-Bago A; Lanuza-López MC; Cancino-Villarreal P; Gutiérrez-Gamiño AM; Gutiérrez-Gutiérrez AM
Rev Invest Clin; 2018; 70(4):164-168. PubMed ID: 30067729
[TBL] [Abstract][Full Text] [Related]
10. Prenatal diagnosis of cystic kidney disease with ventriculomegaly: a report of six cases in two related sibships.
Reuss A; den Hollander JC; Niermeijer MF; Wladimiroff JW; van Diggelen OP; Lindhout D; Los FJ
Am J Med Genet; 1989 Jul; 33(3):385-9. PubMed ID: 2478019
[TBL] [Abstract][Full Text] [Related]
11. Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures.
Mero IL; Mørk HH; Sheng Y; Blomhoff A; Opheim GL; Erichsen A; Vigeland MD; Selmer KK
Hum Mol Genet; 2017 Oct; 26(19):3792-3796. PubMed ID: 28934391
[TBL] [Abstract][Full Text] [Related]
12. Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.
van den Hurk JA; Rashbass P; Roepman R; Davis J; Voesenek KE; Arends ML; Zonneveld MN; van Roekel MH; Cameron K; Rohrschneider K; Heckenlively JR; Koenekoop RK; Hoyng CB; Cremers FP; den Hollander AI
Mol Vis; 2005 Apr; 11():263-73. PubMed ID: 15851977
[TBL] [Abstract][Full Text] [Related]
13. Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease.
Berckmoes V; Verdyck P; De Becker P; De Vos A; Verheyen G; Van der Niepen P; Verpoest W; Liebaers I; Bonduelle M; Keymolen K; De Rycke M
Hum Reprod; 2019 May; 34(5):949-958. PubMed ID: 30927425
[TBL] [Abstract][Full Text] [Related]
14. Clinical utility of combined preimplantation genetic testing methods in couples at risk of passing on beta thalassemia/hemoglobin E disease: A retrospective review from a single center.
Satirapod C; Sukprasert M; Panthan B; Charoenyingwattana A; Chitayanan P; Chantratita W; Choktanasiri W; Trachoo O; Hongeng S
PLoS One; 2019; 14(11):e0225457. PubMed ID: 31751397
[TBL] [Abstract][Full Text] [Related]
15. 28 novel mutations identified from 33 Chinese patients with cilia-related kidney disorders.
Liang N; Jiang X; Zeng L; Li Z; Liang D; Wu L
Clin Chim Acta; 2020 Feb; 501():207-215. PubMed ID: 31730820
[TBL] [Abstract][Full Text] [Related]
16. Long-term clinicopathologic observation in a case of steroid-resistant nephrotic syndrome caused by a novel Crumbs homolog 2 mutation.
Watanabe S; Aizawa T; Tsukaguchi H; Tsugawa K; Tsuruga K; Shono A; Nozu K; Iijima K; Joh K; Tanaka H
Nephrology (Carlton); 2018 Jul; 23(7):697-702. PubMed ID: 29473663
[TBL] [Abstract][Full Text] [Related]
17. Universal strategy for preimplantation genetic testing for cystic fibrosis based on next generation sequencing.
Chamayou S; Sicali M; Lombardo D; Alecci C; Ragolia C; Maglia E; Liprino A; Cardea C; Storaci G; Romano S; Guglielmino A
J Assist Reprod Genet; 2020 Jan; 37(1):213-222. PubMed ID: 31828483
[TBL] [Abstract][Full Text] [Related]
18. Knowledge, attitude and ethical consideration of Chinese couples requesting preimplantation genetic testing in Hong Kong.
Chan SHS; Li RHW; Lee VCY; Tang MHY; Ng EHY
J Obstet Gynaecol Res; 2019 Jun; 45(6):1096-1105. PubMed ID: 30746853
[TBL] [Abstract][Full Text] [Related]
19. Can preimplantation genetic diagnosis be used for monogenic endocrine diseases?
Yeager S; Mehta S; Sodhi M; Shah B
J Pediatr Endocrinol Metab; 2019 Dec; 32(12):1305-1310. PubMed ID: 31490775
[TBL] [Abstract][Full Text] [Related]
20. Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome.
Udagawa T; Jo T; Yanagihara T; Shimizu A; Mitsui J; Tsuji S; Morishita S; Onai R; Miura K; Kanda S; Kajiho Y; Tsurumi H; Oka A; Hattori M; Harita Y
Pediatr Nephrol; 2017 May; 32(5):801-809. PubMed ID: 27942854
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
