Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 92

Similar articles for PubMed (Select 19339788)

1.

MAMLD1 (CXorf6): a new gene involved in hypospadias.

Ogata T, Laporte J, Fukami M.

Horm Res. 2009;71(5):245-52. doi: 10.1159/000208797. Epub 2009 Apr 1. Review.

2.

Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias.

Igarashi M, Wada Y, Kojima Y, Miyado M, Nakamura M, Muroya K, Mizuno K, Hayashi Y, Nonomura K, Kohri K, Ogata T, Fukami M.

Sex Dev. 2015 Mar 31. [Epub ahead of print]

PMID:
25833151
3.

A novel hemizygous mutation of MAMLD1 in a patient with 46,XY complete gonadal dysgenesis.

Ruiz-Arana IL, Hübner A, Cetingdag C, Krude H, Grüters A, Fukami M, Biebermann H, Köhler B.

Sex Dev. 2015;9(2):80-5. doi: 10.1159/000371603. Epub 2015 Feb 3.

PMID:
25660412
4.

MAMLD1 (CXorf6) is a New Gene for Hypospadias.

Ogata T, Fukami M, Wada Y.

Clin Pediatr Endocrinol. 2008;17(4):87-93. doi: 10.1297/cpe.17.87. Epub 2008 Nov 8. Review.

5.

X-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report.

Metwalley KA, Farghaly HS.

J Med Case Rep. 2012 Dec 28;6:428. doi: 10.1186/1752-1947-6-428.

6.

Mamld1 deficiency significantly reduces mRNA expression levels of multiple genes expressed in mouse fetal Leydig cells but permits normal genital and reproductive development.

Miyado M, Nakamura M, Miyado K, Morohashi K, Sano S, Nagata E, Fukami M, Ogata T.

Endocrinology. 2012 Dec;153(12):6033-40. doi: 10.1210/en.2012-1324. Epub 2012 Oct 18.

7.

MAMLD1 and 46,XY disorders of sex development.

Ogata T, Sano S, Nagata E, Kato F, Fukami M.

Semin Reprod Med. 2012 Oct;30(5):410-6. doi: 10.1055/s-0032-1324725. Epub 2012 Oct 8. Review.

PMID:
23044878
8.

[Single-nucleotide polymorphisms of MAMLD1 and hypospadias in Chinese].

Zhuang LK, Fu QH, Wang J, Sun J.

Zhonghua Nan Ke Xue. 2012 Aug;18(8):727-30. Chinese.

PMID:
22934520
9.

Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations.

Kalfa N, Fukami M, Philibert P, Audran F, Pienkowski C, Weill J, Pinto G, Manouvrier S, Polak M, Ogata T, Sultan C.

PLoS One. 2012;7(3):e32505. doi: 10.1371/journal.pone.0032505. Epub 2012 Mar 30.

10.

Polymorphisms of MAMLD1 gene in hypospadias.

Kalfa N, Cassorla F, Audran F, Oulad Abdennabi I, Philibert P, Béroud C, Guys JM, Reynaud R, Alessandrini P, Wagner K, Bréaud J, Valla JS, Morisson Lacombe G, Daures JP, Baskin L, Fukami M, Ogata T, Sultan C.

J Pediatr Urol. 2011 Dec;7(6):585-91. doi: 10.1016/j.jpurol.2011.09.005. Epub 2011 Oct 24.

PMID:
22030455
11.

MAMLD1 (mastermind-like domain containing 1) homozygous gain-of-function missense mutation causing 46,XX disorder of sex development in a virilized female.

Brandão MP, Costa EM, Fukami M, Gerdulo M, Pereira NP, Domenice S, Ogata T, Mendonca BB.

Adv Exp Med Biol. 2011;707:129-31. doi: 10.1007/978-1-4419-8002-1_28. No abstract available.

PMID:
21691970
12.

Mamld1 knockdown reduces testosterone production and Cyp17a1 expression in mouse Leydig tumor cells.

Nakamura M, Fukami M, Sugawa F, Miyado M, Nonomura K, Ogata T.

PLoS One. 2011 Apr 29;6(4):e19123. doi: 10.1371/journal.pone.0019123.

13.

A new nonsense mutation of the IGHMBP2 gene responsible for the first case of SMARD1 in a Sardinian patient with giant cell hepatitis.

Fanos V, Cuccu A, Nemolato S, Marinelli V, Faa G.

Neuropediatrics. 2010 Jun;41(3):132-4. doi: 10.1055/s-0030-1262852. Epub 2010 Sep 21.

PMID:
20859832
14.

Mutational study of the MAMLD1-gene in hypospadias.

Chen Y, Thai HT, Lundin J, Lagerstedt-Robinson K, Zhao S, Markljung E, Nordenskjöld A.

Eur J Med Genet. 2010 May-Jun;53(3):122-6. doi: 10.1016/j.ejmg.2010.03.005. Epub 2010 Mar 25.

PMID:
20347055
15.

Genetic pathway of external genitalia formation and molecular etiology of hypospadias.

Kojima Y, Kohri K, Hayashi Y.

J Pediatr Urol. 2010 Aug;6(4):346-54. doi: 10.1016/j.jpurol.2009.11.007. Epub 2009 Dec 7. Review.

PMID:
19995686
16.

Identification of Nepro, a gene required for the maintenance of neocortex neural progenitor cells downstream of Notch.

Muroyama Y, Saito T.

Development. 2009 Dec;136(23):3889-93. doi: 10.1242/dev.039180.

17.

Vascular niche factor PEDF modulates Notch-dependent stemness in the adult subependymal zone.

Andreu-Agulló C, Morante-Redolat JM, Delgado AC, Fariñas I.

Nat Neurosci. 2009 Dec;12(12):1514-23. doi: 10.1038/nn.2437. Epub 2009 Nov 8.

PMID:
19898467
18.

Prenatal retinoic acid up-regulates pulmonary gene expression of COUP-TFII, FOG2, and GATA4 in pulmonary hypoplasia.

Doi T, Sugimoto K, Puri P.

J Pediatr Surg. 2009 Oct;44(10):1933-7. doi: 10.1016/j.jpedsurg.2009.04.027.

PMID:
19853750
19.

Clinical dilemmas and surgical treatment of penoscrotal, scrotal and perineal hypospadias.

Ahmeti H, Kolgeci S, Arifi H, Jaha L.

Bosn J Basic Med Sci. 2009 Aug;9(3):229-34.

PMID:
19754479
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk