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Items: 1 to 20 of 56

1.

In silico structural, functional and pathogenicity evaluation of a novel mutation: an overview of HSD3B2 gene mutations.

Rabbani B, Mahdieh N, Haghi Ashtiani MT, Setoodeh A, Rabbani A.

Gene. 2012 Jul 25;503(2):215-21. doi: 10.1016/j.gene.2012.04.080. Epub 2012 May 8.

PMID:
22579964
2.

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.

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A novel missense mutation in the HSD3B2 gene, underlying nonsalt-wasting congenital adrenal hyperplasia. new insight into the structure-function relationships of 3β-hydroxysteroid dehidrogenase type II.

Baquedano MS, Ciaccio M, Marino R, Perez Garrido N, Ramirez P, Maceiras M, Turjanski A, Defelipe LA, Rivarola MA, Belgorosky A.

J Clin Endocrinol Metab. 2015 Jan;100(1):E191-6. doi: 10.1210/jc.2014-2676.

PMID:
25322271
6.

A New Homozygous Frameshift Mutation in the HSD3B2 Gene in an Apparently Nonconsanguineous Italian Family.

Bizzarri C, Massimi A, Federici L, Cualbu A, Loche S, Bellincampi L, Bernardini S, Cappa M, Porzio O.

Horm Res Paediatr. 2016;86(1):53-61. doi: 10.1159/000444712. Epub 2016 Apr 16.

PMID:
27082427
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3β-hydroxysteroid dehydrogenase type II deficiency on newborn screening test.

Araújo VG, Oliveira RS, Gameleira KP, Cruz CB, Lofrano-Porto A.

Arq Bras Endocrinol Metabol. 2014 Aug;58(6):650-5.

9.

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.

PMID:
10599696
10.

Non-Virilizing Congenital Adrenal Hyperplasia in a Female Patient with a Novel HSD3B2 Mutation.

Probst-Scheidegger U, Udhane SS, l'Allemand D, Flück CE, Camats N.

Sex Dev. 2016;10(4):200-204. Epub 2016 Sep 15.

PMID:
27626911
11.

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. Review.

PMID:
12428206
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Two novel HSD3B2 missense mutations with diverse residual enzymatic activities for Δ5-steroids.

Takasawa K, Ono M, Hijikata A, Matsubara Y, Katsumata N, Takagi M, Morio T, Ohara O, Kashimada K, Mizutani S.

Clin Endocrinol (Oxf). 2014 Jun;80(6):782-9. doi: 10.1111/cen.12394. Epub 2014 Jan 16.

PMID:
24372086
14.

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 1;9(1):70-73. doi: 10.4274/jcrpe.3680. Epub 2016 Oct 31.

15.

A novel androgen receptor gene mutation in a patient with congenital adrenal hyperplasia associated with penoscrotal hypospadias.

Sharma V, Thangaraj K, Jyothy A.

Transl Res. 2014 Aug;164(2):149-52. doi: 10.1016/j.trsl.2014.03.013. Epub 2014 May 6.

PMID:
24907477
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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. doi: 10.1210/jc.2007-1874. Epub 2008 Feb 5.

PMID:
18252794

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