Leheup B - Search Results

1

Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature.

Agopiantz M, Corbonnois P, Sorlin A, Bonnet C, Klein M, Hubert N, Pascal-Vigneron V, Jonveaux P, Cuny T, Leheup B, Weryha G. Agopiantz M, et al. Among authors: leheup b. J Endocrinol Invest. 2014 Jan;37(1):1-7. doi: 10.1007/s40618-013-0001-5. Epub 2014 Jan 8. J Endocrinol Invest. 2014. PMID: 24464444 Review.

2

McCune-Albright syndrome, natural history and multidisciplinary management in a series of 14 pediatric cases.

Agopiantz M, Journeau P, Lebon-Labich B, Sorlin A, Cuny T, Weryha G, Leheup B. Agopiantz M, et al. Among authors: leheup b. Ann Endocrinol (Paris). 2016 Feb;77(1):7-13. doi: 10.1016/j.ando.2016.01.002. Epub 2016 Feb 2. Ann Endocrinol (Paris). 2016. PMID: 26850292

3

Fertility in McCune Albright syndrome female: A case study focusing on AMH as a marker of ovarian dysfunction and a literature review.

Agopiantz M, Sorlin A, Vabres P, Leheup B, Carmignac V, Malaplate-Armand C, Diligent C, Bonnet C, Gauchotte G. Agopiantz M, et al. Among authors: leheup b. J Gynecol Obstet Hum Reprod. 2021 Nov;50(9):102171. doi: 10.1016/j.jogoh.2021.102171. Epub 2021 May 25. J Gynecol Obstet Hum Reprod. 2021. PMID: 34048958 Review.

4

Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization.

Bonnet C, Grégoire MJ, Brochet K, Raffo E, Leheup B, Jonveaux P. Bonnet C, et al. Among authors: leheup b. J Hum Genet. 2006;51(9):815. doi: 10.1007/s10038-006-0023-3. Epub 2006 Aug 10. J Hum Genet. 2006. PMID: 16900295

5

Clinical audit concerning the quality of management in patients with classic form of congenital adrenal hyperplasia.

Janin C, Pascal Vigneron V, Weryha G, Leheup B. Janin C, et al. Among authors: leheup b. Ann Endocrinol (Paris). 2013 Feb;74(1):13-26. doi: 10.1016/j.ando.2012.10.003. Epub 2013 Jan 26. Ann Endocrinol (Paris). 2013. PMID: 23357572

6

Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene.

Bonnet C, Grégoire MJ, Vibert M, Raffo E, Leheup B, Jonveaux P. Bonnet C, et al. Among authors: leheup b. J Hum Genet. 2008;53(10):876-885. doi: 10.1007/s10038-008-0321-z. Epub 2008 Jul 24. J Hum Genet. 2008. PMID: 18651096

7

[Azoospermia and 45,X/46,XY chromosomal mosaicism: a case report].

Le Chatton M, Zaccabri A, Agopiantz M, Leheup B, Weryha G, Foliguet B. Le Chatton M, et al. Among authors: leheup b. Gynecol Obstet Fertil. 2013 Mar;41(3):203-6. doi: 10.1016/j.gyobfe.2013.01.007. Epub 2013 Mar 14. Gynecol Obstet Fertil. 2013. PMID: 23498728 French.

8

Extended spectrum of MBD5 mutations in neurodevelopmental disorders.

Bonnet C, Ali Khan A, Bresso E, Vigouroux C, Béri M, Lejczak S, Deemer B, Andrieux J, Philippe C, Moncla A, Giurgea I, Devignes MD, Leheup B, Jonveaux P. Bonnet C, et al. Among authors: leheup b. Eur J Hum Genet. 2013 Dec;21(12):1457-61. doi: 10.1038/ejhg.2013.22. Epub 2013 Feb 20. Eur J Hum Genet. 2013. PMID: 23422940 Free PMC article.

9

Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication.

Piard J, Philippe C, Marvier M, Beneteau C, Roth V, Valduga M, Béri M, Bonnet C, Grégoire MJ, Jonveaux P, Leheup B. Piard J, et al. Among authors: leheup b. Am J Med Genet A. 2010 Aug;152A(8):1933-41. doi: 10.1002/ajmg.a.33521. Am J Med Genet A. 2010. PMID: 20635369

10

Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardation.

Bonnet C, Leheup B, Béri M, Philippe C, Grégoire MJ, Jonveaux P. Bonnet C, et al. Among authors: leheup b. Am J Med Genet A. 2009 Jun;149A(6):1280-9. doi: 10.1002/ajmg.a.32858. Am J Med Genet A. 2009. PMID: 19449417

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