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Results: 1 to 20 of 136

1.

A novel CHD7 mutation in a Chinese patient with CHARGE syndrome.

Liu L, Yu T, Wang L, Mo X, Yu Y.

Meta Gene. 2014 Jul 5;2:469-78. doi: 10.1016/j.mgene.2014.06.002. eCollection 2014 Dec.

PMID:
25606431
[PubMed]
Free PMC Article
2.

Generation of haploid spermatids with fertilization and development capacity from human spermatogonial stem cells of cryptorchid patients.

Yang S, Ping P, Ma M, Li P, Tian R, Yang H, Liu Y, Gong Y, Zhang Z, Li Z, He Z.

Stem Cell Reports. 2014 Oct 14;3(4):663-75. doi: 10.1016/j.stemcr.2014.08.004. Epub 2014 Sep 18.

PMID:
25358793
[PubMed - in process]
Free PMC Article
3.

DNAJB13, a type II HSP40 family member, localizes to the spermatids and spermatozoa during mouse spermatogenesis.

Li W, Liu G.

BMC Dev Biol. 2014 Sep 19;14:38. doi: 10.1186/s12861-014-0038-5.

PMID:
25233908
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.

Jorgez CJ, Rosenfeld JA, Wilken NR, Vangapandu HV, Sahin A, Pham D, Carvalho CM, Bandholz A, Miller A, Weaver DD, Burton B, Babu D, Bamforth JS, Wilks T, Flynn DP, Roeder E, Patel A, Cheung SW, Lupski JR, Lamb DJ.

PLoS One. 2014 Sep 9;9(9):e107028. doi: 10.1371/journal.pone.0107028. eCollection 2014.

PMID:
25203062
[PubMed - in process]
Free PMC Article
5.

Increased gene copy number of VAMP7 disrupts human male urogenital development through altered estrogen action.

Tannour-Louet M, Han S, Louet JF, Zhang B, Romero K, Addai J, Sahin A, Cheung SW, Lamb DJ.

Nat Med. 2014 Jul;20(7):715-24. doi: 10.1038/nm.3580. Epub 2014 Jun 1.

PMID:
24880616
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Lowe syndrome: a single center's experience in Korea.

Kim HK, Kim JH, Kim YM, Kim GH, Lee BH, Choi JH, Yoo HW.

Korean J Pediatr. 2014 Mar;57(3):140-8. doi: 10.3345/kjp.2014.57.3.140. Epub 2014 Mar 31.

PMID:
24778696
[PubMed]
Free PMC Article
7.

Familial testicular germ cell tumor: no associated syndromic pattern identified.

Mueller CM, Korde LA, McMaster ML, Peters JA, Bratslavsky G, Watkins RJ, Ling A, Kratz CP, Wulfsberg EA, Rosenberg PS, Greene MH.

Hered Cancer Clin Pract. 2014 Feb 21;12(1):3. doi: 10.1186/1897-4287-12-3.

PMID:
24559313
[PubMed]
Free PMC Article
8.

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene.

Cappuccio G, Rossi A, Fontana P, Acampora E, Avolio V, Merla G, Zelante L, Secinaro A, Andria G, Melis D.

BMC Med Genet. 2014 Jan 28;15:15. doi: 10.1186/1471-2350-15-15.

PMID:
24472332
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Noonan syndrome.

Bhambhani V, Muenke M.

Am Fam Physician. 2014 Jan 1;89(1):37-43.

PMID:
24444506
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

The effect of 5α-reductase-2 deficiency on human fertility.

Kang HJ, Imperato-McGinley J, Zhu YS, Rosenwaks Z.

Fertil Steril. 2014 Feb;101(2):310-6. doi: 10.1016/j.fertnstert.2013.11.128. Epub 2014 Jan 8. Review.

PMID:
24412121
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Similar causes of various reproductive disorders in early life.

Svechnikov K, Stukenborg JB, Savchuck I, Söder O.

Asian J Androl. 2014 Jan-Feb;16(1):50-9. doi: 10.4103/1008-682X.122199. Review.

PMID:
24369133
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Gestational diabetes and the risk of cryptorchidism and hypospadias.

Trabert B, Chodick G, Shalev V, Sella T, Longnecker MP, McGlynn KA.

Epidemiology. 2014 Jan;25(1):152-3. doi: 10.1097/EDE.0000000000000014. No abstract available.

PMID:
24296929
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys.

Vizeneux A, Hilfiger A, Bouligand J, Pouillot M, Brailly-Tabard S, Bashamboo A, McElreavey K, Brauner R.

PLoS One. 2013 Oct 24;8(10):e77827. doi: 10.1371/journal.pone.0077827. eCollection 2013.

PMID:
24204987
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

The fate of spermatogonial stem cells in the cryptorchid testes of RXFP2 deficient mice.

Ferguson L, How JJ, Agoulnik AI.

PLoS One. 2013 Oct 3;8(10):e77351. doi: 10.1371/journal.pone.0077351. eCollection 2013.

PMID:
24098584
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

One abstinence day decreases sperm DNA fragmentation in 90 % of selected patients.

Pons I, Cercas R, Villas C, Braña C, Fernández-Shaw S.

J Assist Reprod Genet. 2013 Sep;30(9):1211-8. doi: 10.1007/s10815-013-0089-8. Epub 2013 Sep 1.

PMID:
23996278
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

A case series of five sri lankan patients with ovotesticular disorder of sex development.

Wettasinghe KT, Sirisena ND, Andraweera PH, Jayasekara RW, Dissanayake VH.

Clin Pediatr Endocrinol. 2012 Oct;21(4):69-73. doi: 10.1297/cpe.21.69. Epub 2012 Oct 30.

PMID:
23926413
[PubMed]
Free PMC Article
17.

Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.

Gripp KW, Zand DJ, Demmer L, Anderson CE, Dobyns WB, Zackai EH, Denenberg E, Jenny K, Stabley DL, Sol-Church K.

Am J Med Genet A. 2013 Oct;161A(10):2420-30. doi: 10.1002/ajmg.a.36098. Epub 2013 Aug 5.

PMID:
23918763
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndrome.

Kalfa N, Philibert P, Werner R, Audran F, Bashamboo A, Lehors H, Haddad M, Guys JM, Reynaud R, Alessandrini P, Wagner K, Kurzenne JY, Bastiani F, Bréaud J, Valla JS, Lacombe GM, Orsini M, Daures JP, Hiort O, Paris F, McElreavey K, Sultan C.

PLoS One. 2013 Apr 30;8(4):e61824. doi: 10.1371/journal.pone.0061824. Print 2013.

PMID:
23637914
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Congenital malformations and testicular germ cell tumors.

Trabert B, Zugna D, Richiardi L, McGlynn KA, Akre O.

Int J Cancer. 2013 Oct 15;133(8):1900-4. doi: 10.1002/ijc.28207. Epub 2013 May 15.

PMID:
23580254
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Testicular cancer and cryptorchidism.

Ferguson L, Agoulnik AI.

Front Endocrinol (Lausanne). 2013 Mar 20;4:32. doi: 10.3389/fendo.2013.00032. eCollection 2013.

PMID:
23519268
[PubMed]
Free PMC Article

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