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Best matches for defect AND SRY:

Testis Development. Mäkelä JA et al. Endocr Rev. (2019)

Disorders of sex development. Witchel SF et al. Best Pract Res Clin Obstet Gynaecol. (2018)

Genetic and epigenetic effects in sex determination. Gunes SO et al. Birth Defects Res C Embryo Today. (2016)

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Items: 1 to 20 of 55


Glutamic acid-based dendritic peptides for scaffold-free cartilage tissue engineering.

Sivadas VP, Dhawan S, Babu J, Haridas V, Nair PD.

Acta Biomater. 2019 Sep 12. pii: S1742-7061(19)30622-1. doi: 10.1016/j.actbio.2019.09.010. [Epub ahead of print]


The expanding phenotypes of cohesinopathies: one ring to rule them all!

Piché J, Van Vliet PP, Pucéat M, Andelfinger G.

Cell Cycle. 2019 Nov;18(21):2828-2848. doi: 10.1080/15384101.2019.1658476. Epub 2019 Sep 13.


Testis Development.

Mäkelä JA, Koskenniemi JJ, Virtanen HE, Toppari J.

Endocr Rev. 2019 Aug 1;40(4):857-905. doi: 10.1210/er.2018-00140.


Localization of the SRY Gene on Chromosome 3 in a Patient with Azoospermia and a Complex Karyotype 45,X/46,X,i(Y)(q10)/46,XX/ 47,XX,i(Y)(q10).

Barnabas LC, Sumathy A, Indumathi MA, Varma TR, Shetty S, Kadandale JS, Kar B.

Cytogenet Genome Res. 2018;156(3):134-139. doi: 10.1159/000494464. Epub 2018 Nov 23.


Human nasoseptal chondrocytes maintain their differentiated phenotype on PLLA scaffolds produced by thermally induced phase separation and supplemented with bioactive glass 1393.

Conoscenti G, Carfì Pavia F, Ongaro A, Brucato V, Goegele C, Schwarz S, Boccaccini AR, Stoelzel K, La Carrubba V, Schulze-Tanzil G.

Connect Tissue Res. 2019 Jul;60(4):344-357. doi: 10.1080/03008207.2018.1539083. Epub 2018 Dec 5.


Histone hypo-acetylation of Sox9 mediates nicotine-induced weak cartilage repair by suppressing BMSC chondrogenic differentiation.

Tie K, Wu M, Deng Y, Wen Y, Dan Xu, Chen L, Wang H.

Stem Cell Res Ther. 2018 Apr 10;9(1):98. doi: 10.1186/s13287-018-0853-x.


Transcription factor scleraxis vitally contributes to progenitor lineage direction in wound healing of adult tendon in mice.

Sakabe T, Sakai K, Maeda T, Sunaga A, Furuta N, Schweitzer R, Sasaki T, Sakai T.

J Biol Chem. 2018 Apr 20;293(16):5766-5780. doi: 10.1074/jbc.RA118.001987. Epub 2018 Mar 5.


Role of RHEB in Regulating Differentiation Fate of Mesenchymal Stem Cells for Cartilage and Bone Regeneration.

Ashraf S, Han IB, Park H, Lee SH.

Int J Mol Sci. 2017 Apr 24;18(4). pii: E880. doi: 10.3390/ijms18040880.


A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis.

Fan W, Wang B, He S, Zhang T, Yin C, Chen Y, Zheng S, Zhang J, Li L.

PLoS One. 2016 Dec 28;11(12):e0168484. doi: 10.1371/journal.pone.0168484. eCollection 2016.


Reconstruction of Anterior Tracheal Defects Using a Bioengineered Graft in a Porcine Model.

Al-Ayoubi AM, Rehmani SS, Sinclair CF, Lebovics RS, Bhora FY.

Ann Thorac Surg. 2017 Feb;103(2):381-389. doi: 10.1016/j.athoracsur.2016.10.034. Epub 2016 Oct 27.


Trophoblast Retrieval and Isolation From the Cervix for Noninvasive, First Trimester, Fetal Gender Determination in a Carrier of Congenital Adrenal Hyperplasia.

Bolnick AD, Fritz R, Jain C, Kadam L, Bolnick JM, Kilburn BA, Singh M, Diamond MP, Drewlo S, Armant DR.

Reprod Sci. 2016 Jun;23(6):717-22. doi: 10.1177/1933719116632922. Epub 2016 Feb 25.


Androgen insensitivity syndrome in a cohort of Sri Lankan children with 46, XY disorders of sex development (46, XY DSD).

de Silva KS, Sirisena ND, Wijenayaka HK, Cooray JG, Jayasekara RW, Dissanayake VH.

Ceylon Med J. 2015 Dec;60(4):139-42. doi: 10.4038/cmj.v60i4.8221.


Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency.

Eren E, Edgünlü T, Asut E, Karakaş Çelik S.

J Clin Res Pediatr Endocrinol. 2016 Jun 5;8(2):218-23. doi: 10.4274/jcrpe.2495. Epub 2016 Jan 12.


The expression profile analysis of NKX2-5 knock-out embryonic mice to explore the pathogenesis of congenital heart disease.

Li J, Cao Y, Wu Y, Chen W, Yuan Y, Ma X, Huang G.

J Cardiol. 2015 Dec;66(6):527-31. doi: 10.1016/j.jjcc.2014.12.022. Epub 2015 Mar 24.


Etiological diagnosis of undervirilized male/XY disorder of sex development.

Atta I, Ibrahim M, Parkash A, Lone SW, Khan YN, Raza J.

J Coll Physicians Surg Pak. 2014 Oct;24(10):714-8. doi: 10.2014/JCPSP.714718.


Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report.

Mutlu GY, Kırmızıbekmez H, Aydın H, Çetiner H, Moralıoğlu S, Celayir AC.

J Pediatr Endocrinol Metab. 2015 Jan;28(1-2):207-10. doi: 10.1515/jpem-2014-0071.


Osteochondral tissue regeneration through polymeric delivery of DNA encoding for the SOX trio and RUNX2.

Needham CJ, Shah SR, Dahlin RL, Kinard LA, Lam J, Watson BM, Lu S, Kasper FK, Mikos AG.

Acta Biomater. 2014 Oct;10(10):4103-12. doi: 10.1016/j.actbio.2014.05.011. Epub 2014 May 20.


Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

Chassaing N, Causse A, Vigouroux A, Delahaye A, Alessandri JL, Boespflug-Tanguy O, Boute-Benejean O, Dollfus H, Duban-Bedu B, Gilbert-Dussardier B, Giuliano F, Gonzales M, Holder-Espinasse M, Isidor B, Jacquemont ML, Lacombe D, Martin-Coignard D, Mathieu-Dramard M, Odent S, Picone O, Pinson L, Quelin C, Sigaudy S, Toutain A, Thauvin-Robinet C, Kaplan J, Calvas P.

Clin Genet. 2014 Oct;86(4):326-34. doi: 10.1111/cge.12275. Epub 2013 Oct 7.


Genomic code for Sox2 binding uncovers its regulatory role in Six3 activation in the forebrain.

Lee B, Song H, Rizzoti K, Son Y, Yoon J, Baek K, Jeong Y.

Dev Biol. 2013 Sep 15;381(2):491-501. doi: 10.1016/j.ydbio.2013.06.016. Epub 2013 Jun 19.

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