143 related articles for article (PubMed ID: 32072793)
1. Birth of a healthy boy following preimplantation genetic diagnosis for congenital adrenal hyperplasia.
Reihani-Sabet F; Eftekhari-Yazdi P; Boroujeni PB; Saffari JR; Almadani N; Boloori S; Zamanian MR
JBRA Assist Reprod; 2020 May; 24(2):227-230. PubMed ID: 32072793
[TBL] [Abstract][Full Text] [Related]
2. Preimplantation genetic diagnosis (PGD)--prevention of the birth of children affected with endocrine diseases.
Altarescu G; Barenholz O; Renbaum P; Beeri R; Levy-Lahad E; Margalioth EJ; Brooks B; Varshaver I; Eldar-Geva T
J Pediatr Endocrinol Metab; 2011; 24(7-8):543-8. PubMed ID: 21932595
[TBL] [Abstract][Full Text] [Related]
3. Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase deficiency.
Simard J; Moisan AM; Morel Y
Semin Reprod Med; 2002 Aug; 20(3):255-76. PubMed ID: 12428206
[TBL] [Abstract][Full Text] [Related]
4. A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Coeli-Lacchini FB; Turatti W; Elias PC; Elias LL; Martinelli CE; Moreira AC; Antonini SR; de Castro M
Gene; 2013 Sep; 526(2):239-45. PubMed ID: 23570880
[TBL] [Abstract][Full Text] [Related]
5. Late diagnosis of 3β-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the
Fanis P; Neocleous V; Kosta K; Karipiadou A; Hartmann MF; Wudy SA; Karantaglis N; Papadimitriou DT; Skordis N; Tsikopoulos G; Phylactou LA; Roilides E; Papagianni M
J Pediatr Endocrinol Metab; 2021 Jan; 34(1):131-136. PubMed ID: 33180036
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Fluorescent PCR and automated fragment analysis in preimplantation genetic diagnosis for 21-hydroxylase deficiency in congenital adrenal hyperplasia.
Van de Velde H; Sermon K; De Vos A; Lissens W; Joris H; Vandervorst M; Van Steirteghem A; Liebaers I
Mol Hum Reprod; 1999 Jul; 5(7):691-6. PubMed ID: 10381826
[TBL] [Abstract][Full Text] [Related]
8. [A novel homozygous mutation p.E25X in the HSD3B2 gene causing salt wasting 3β-hydroxysteroid dehydrogenases deficiency in a Chinese pubertal girl: a delayed diagnosis until recurrent ovary cysts].
Huang Y; Zheng J; Xie T; Xiao Q; Lu S; Li X; Cheng J; Chen L; Liu L
Zhonghua Er Ke Za Zhi; 2014 Dec; 52(12):948-51. PubMed ID: 25619355
[TBL] [Abstract][Full Text] [Related]
9. Co-Occurrence of a Pathogenic
Mellone S; Bertelli E; Roviglione B; Vurchio D; Ronzani S; Secco A; Felici E; Strozzi MM; Schena F; Giordano M
Genes (Basel); 2022 Nov; 13(12):. PubMed ID: 36553457
[TBL] [Abstract][Full Text] [Related]
10. Preimplantation genetic diagnosis of skin fragility-ectodermal dysplasia syndrome.
Fassihi H; Grace J; Lashwood A; Whittock NV; Braude PR; Pickering SJ; McGrath JA
Br J Dermatol; 2006 Mar; 154(3):546-50. PubMed ID: 16445790
[TBL] [Abstract][Full Text] [Related]
11. Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia.
Welzel M; Wüstemann N; Simic-Schleicher G; Dörr HG; Schulze E; Shaikh G; Clayton P; Grötzinger J; Holterhus PM; Riepe FG
J Clin Endocrinol Metab; 2008 Apr; 93(4):1418-25. PubMed ID: 18252794
[TBL] [Abstract][Full Text] [Related]
12. Birth of a healthy boy after a double factor PGD in a couple carrying a genetic disease and at risk for aneuploidy: case report.
Obradors A; Fernández E; Oliver-Bonet M; Rius M; de la Fuente A; Wells D; Benet J; Navarro J
Hum Reprod; 2008 Aug; 23(8):1949-56. PubMed ID: 18523000
[TBL] [Abstract][Full Text] [Related]
13. Singleton births after routine preimplantation genetic diagnosis using exclusion testing (D4S43 and D4S126) for Huntington's disease.
Jasper MJ; Hu DG; Liebelt J; Sherrin D; Watson R; Tremellen KP; Hussey ND
Fertil Steril; 2006 Mar; 85(3):597-602. PubMed ID: 16500325
[TBL] [Abstract][Full Text] [Related]
14. Structural aspects of the p.P222Q homozygous mutation of HSD3B2 gene in a patient with congenital adrenal hyperplasia.
Lusa LG; Lemos-Marini SH; Soardi FC; Ferraz LF; Guerra-Júnior G; Mello MP
Arq Bras Endocrinol Metabol; 2010 Nov; 54(8):768-74. PubMed ID: 21340167
[TBL] [Abstract][Full Text] [Related]
15. Three cases of 3β-hydroxysteroid dehydrogenase deficiency: Clinical analysis.
Chen L; Huang H; Zhang H; Zhu G; Zhu M
Adv Clin Exp Med; 2021 Mar; 30(3):289-299. PubMed ID: 33757164
[TBL] [Abstract][Full Text] [Related]
16. A novel homozygous Q334X mutation in the HSD3B2 gene causing classic 3β-hydroxysteroid dehydrogenase deficiency: an unexpected diagnosis after a positive newborn screen for 21-hydroxylase deficiency.
Jeandron DD; Sahakitrungruang T
Horm Res Paediatr; 2012; 77(5):334-8. PubMed ID: 22343390
[TBL] [Abstract][Full Text] [Related]
17. The first successful application of preimplantation genetic diagnosis for hearing loss in Iran.
Karimi Yazdi A; Davoudi-Dehaghani E; Rabbani Anari M; Fouladi P; Ebrahimi E; Sabeghi S; Eftekharian A; Fatemi KS; Emami H; Sharifi Z; Ramezanzadeh F; Tajdini A; Zeinali S; Amanpour S
Cell Mol Biol (Noisy-le-grand); 2018 Jun; 64(9):1718. PubMed ID: 30030956
[TBL] [Abstract][Full Text] [Related]
18. New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes.
Moisan AM; Ricketts ML; Tardy V; Desrochers M; Mébarki F; Chaussain JL; Cabrol S; Raux-Demay MC; Forest MG; Sippell WG; Peter M; Morel Y; Simard J
J Clin Endocrinol Metab; 1999 Dec; 84(12):4410-25. PubMed ID: 10599696
[TBL] [Abstract][Full Text] [Related]
19. Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.
de Carvalho DF; Miranda MC; Gomes LG; Madureira G; Marcondes JA; Billerbeck AE; Rodrigues AS; Presti PF; Kuperman H; Damiani D; Mendonca BB; Bachega TA
Eur J Endocrinol; 2016 Aug; 175(2):107-16. PubMed ID: 27185867
[TBL] [Abstract][Full Text] [Related]
20. Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia.
Panzer K; Ekhaguere OA; Darbro B; Cook J; Shchelochkov OA
J Clin Res Pediatr Endocrinol; 2017 Mar; 9(1):70-73. PubMed ID: 27796263
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
