PubMed for id: 350775

Year	Number of Results
1979	2
1984	1
1988	1
1991	3
1993	5
1994	2
1995	2
1996	1
1997	3
1998	3
1999	4
2000	3
2001	2
2002	2
2003	1
2004	2
2005	5
2006	5
2007	4
2008	13
2009	8
2010	8
2011	8
2012	2
2013	7
2014	8
2015	8
2016	6
2017	9
2018	8
2019	7
2020	11
2021	5
2022	2
2023	2
2024	1

1

Metabolic and cardiovascular risk factors in Klinefelter syndrome.

Spaziani M, Radicioni AF. Spaziani M, et al. Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):334-343. doi: 10.1002/ajmg.c.31792. Epub 2020 May 26. Am J Med Genet C Semin Med Genet. 2020. PMID: 32452627 Review.

2

Primrose syndrome: Characterization of the phenotype in 42 patients.

Melis D, Carvalho D, Barbaro-Dieber T, Espay AJ, Gambello MJ, Gener B, Gerkes E, Hitzert MM, Hove HB, Jansen S, Jira PE, Lachlan K, Menke LA, Narayanan V, Ortiz D, Overwater E, Posmyk R, Ramsey K, Rossi A, Sandoval RL, Stumpel C, Stuurman KE, Cordeddu V, Turnpenny P, Strisciuglio P, Tartaglia M, Unger S, Waters T, Turnbull C, Hennekam RC. Melis D, et al. Clin Genet. 2020 Jun;97(6):890-901. doi: 10.1111/cge.13749. Epub 2020 Apr 20. Clin Genet. 2020. PMID: 32266967 Free PMC article.

3

Tooth Development Associated with Mutations in Hereditary Vitamin D-Resistant Rickets.

Hanna AE, Sanjad S, Andary R, Nemer G, Ghafari JG. Hanna AE, et al. JDR Clin Trans Res. 2018 Jan;3(1):28-34. doi: 10.1177/2380084417732510. Epub 2017 Sep 20. JDR Clin Trans Res. 2018. PMID: 30938651

4

[An adult patient with 49, XXXXY syndrome: further clinical and biological delineation].

Collet A, Chatelin J, Agopiantz M, Valduga M, Bonnet C, Allou L, Lambert L, Gospodaru RN, Weryha G, Jonveaux P. Collet A, et al. Ann Biol Clin (Paris). 2014 May-Jun;72(3):371-7. doi: 10.1684/abc.2014.0954. Ann Biol Clin (Paris). 2014. PMID: 24876149 Free article. French.

5

A 47,X,+t(X;X)(p22.3;p22.3)del(X)(p11.23q11.2),Y Klinefelter variant with morbid obesity.

Kim Y, Kim WJ, Huh JH, Lee S, Kim D, Hong JW, Lee EJ. Kim Y, et al. Yonsei Med J. 2013 Mar 1;54(2):538-40. doi: 10.3349/ymj.2013.54.2.538. Yonsei Med J. 2013. PMID: 23364994 Free PMC article.

6

Chromosomal variants in klinefelter syndrome.

Frühmesser A, Kotzot D. Frühmesser A, et al. Sex Dev. 2011;5(3):109-23. doi: 10.1159/000327324. Epub 2011 Apr 29. Sex Dev. 2011. PMID: 21540567 Free article. Review.

7

Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype.

Avrahami L, Maas S, Pasmanik-Chor M, Rainshtein L, Magal N, Smitt J, van Marle J, Shohat M, Basel-Vanagaite L. Avrahami L, et al. Clin Genet. 2008 Jul;74(1):47-53. doi: 10.1111/j.1399-0004.2008.01006.x. Epub 2008 Apr 28. Clin Genet. 2008. PMID: 18445049

8

Klinefelter syndrome in clinical practice.

Bojesen A, Gravholt CH. Bojesen A, et al. Nat Clin Pract Urol. 2007 Apr;4(4):192-204. doi: 10.1038/ncpuro0775. Nat Clin Pract Urol. 2007. PMID: 17415352 Review.

9

Testicular cancer in a patient with Primrose syndrome.

Mathijssen IB, van Hasselt-van der Velde J, Hennekam RC. Mathijssen IB, et al. Eur J Med Genet. 2006 Mar-Apr;49(2):127-33. doi: 10.1016/j.ejmg.2005.06.001. Epub 2005 Jun 23. Eur J Med Genet. 2006. PMID: 16530709 Review.

10

Hereditary hypotrichosis simplex: report of a family.

Al Aboud K, Al Hawsawi K, Al Aboud D, Al Githami A. Al Aboud K, et al. Clin Exp Dermatol. 2002 Nov;27(8):654-6. doi: 10.1046/j.1365-2230.2002.01088.x. Clin Exp Dermatol. 2002. PMID: 12472539

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