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Items: 1 to 50 of 107

1.

Novel STAG3 mutations in a Caucasian family with primary ovarian insufficiency.

Heddar A, Dessen P, Flatters D, Misrahi M.

Mol Genet Genomics. 2019 Dec;294(6):1527-1534. doi: 10.1007/s00438-019-01594-4. Epub 2019 Jul 30.

PMID:
31363903
2.

Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency.

Huhtaniemi I, Hovatta O, La Marca A, Livera G, Monniaux D, Persani L, Heddar A, Jarzabek K, Laisk-Podar T, Salumets A, Tapanainen JS, Veitia RA, Visser JA, Wieacker P, Wolczynski S, Misrahi M.

Trends Endocrinol Metab. 2018 Jun;29(6):400-419. doi: 10.1016/j.tem.2018.03.010. Epub 2018 Apr 26. Review.

3.

A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.

Fouquet B, Pawlikowska P, Caburet S, Guigon C, Mäkinen M, Tanner L, Hietala M, Urbanska K, Bellutti L, Legois B, Bessieres B, Gougeon A, Benachi A, Livera G, Rosselli F, Veitia RA, Misrahi M.

Elife. 2017 Dec 12;6. pii: e30490. doi: 10.7554/eLife.30490.

4.

A common African variant of human connexin 37 is associated with Caucasian primary ovarian insufficiency and has a deleterious effect in vitro.

Bachelot A, Gilleron J, Meduri G, Guberto M, Dulon J, Boucherie S, Touraine P, Misrahi M.

Int J Mol Med. 2018 Feb;41(2):640-648. doi: 10.3892/ijmm.2017.3257. Epub 2017 Nov 16.

5.

β-Klotho sustains postnatal GnRH biology and spins the thread of puberty.

Misrahi M.

EMBO Mol Med. 2017 Oct;9(10):1334-1337. doi: 10.15252/emmm.201708180. Review.

6.

BMP15 "knockout-like" effect in familial premature ovarian insufficiency with persistent ovarian reserve.

Mayer A, Fouquet B, Pugeat M, Misrahi M.

Clin Genet. 2017 Aug;92(2):208-212. doi: 10.1111/cge.12970. Epub 2017 Mar 30.

PMID:
28094433
7.

Ovarian-like differentiation in eutopic and ectopic endometrioses with aberrant FSH receptor, INSL3 and GATA4/6 expression.

Fouquet B, Santulli P, Noel JC, Misrahi M.

BBA Clin. 2016 Nov 5;6:143-152. eCollection 2016 Dec.

8.

Identification of Variants of Hepatitis C Virus (HCV) Entry Factors in Patients Highly Exposed to HCV but Remaining Uninfected: An ANRS Case-Control Study.

Fouquet B, Ghosn J, Quertainmont Y, Salmon D, Rioux C, Duvivier C, Delfraissy JF, Misrahi M.

PLoS One. 2015 Nov 16;10(11):e0142698. doi: 10.1371/journal.pone.0142698. eCollection 2015.

9.

Claudin-6 and Occludin Natural Variants Found in a Patient Highly Exposed but Not Infected with Hepatitis C Virus (HCV) Do Not Confer HCV Resistance In Vitro.

Fénéant L, Ghosn J, Fouquet B, Helle F, Belouzard S, Vausselin T, Séron K, Delfraissy JF, Dubuisson J, Misrahi M, Cocquerel L.

PLoS One. 2015 Nov 12;10(11):e0142539. doi: 10.1371/journal.pone.0142539. eCollection 2015.

10.

Genotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France.

Mariani LL, Lozeron P, Théaudin M, Mincheva Z, Signate A, Ducot B, Algalarrondo V, Denier C, Adam C, Nicolas G, Samuel D, Slama MS, Lacroix C, Misrahi M, Adams D; French Familial Amyloid Polyneuropathies Network (CORNAMYL) Study Group.

Ann Neurol. 2015 Dec;78(6):901-16. doi: 10.1002/ana.24519. Epub 2015 Oct 7.

11.

Claudin-1 gene variants and susceptibility to hepatitis C infection in HIV-1 infected intravenous drug users (an ANRS case-control study).

Ghosn J, Fouquet B, Quertainmont Y, Salmon D, Sahali S, Rioux C, Duvivier C, Mole M, Delfraissy JF, Misrahi M.

J Med Virol. 2015 Apr;87(4):619-24. doi: 10.1002/jmv.24088. Epub 2015 Jan 21.

PMID:
25611191
12.

An amyotrophic lateral sclerosis-like syndrome revealing an amyloid polyneuropathy associated with a novel transthyretin mutation.

Lozeron P, Lacroix C, Theaudin M, Richer A, Gugenheim M, Adams D, Misrahi M.

Amyloid. 2013 Sep;20(3):188-92. doi: 10.3109/13506129.2013.818535. Epub 2013 Aug 5.

PMID:
23914756
13.

Wilson disease in offspring of affected patients: report of four French families.

Dufernez F, Lachaux A, Chappuis P, De Lumley L, Bost M, Woimant F, Misrahi M, Debray D.

Clin Res Hepatol Gastroenterol. 2013 Jun;37(3):240-5. doi: 10.1016/j.clinre.2013.01.001. Epub 2013 Apr 6.

PMID:
23567103
14.

Regional difference and similarity of familial amyloidosis with polyneuropathy in France.

Adams D, Lozeron P, Theaudin M, Mincheva Z, Cauquil C, Adam C, Signate A, Vial C, Maisonobe T, Delmont E, Franques J, Vallat JM, Sole G, Pereon Y, Lacour A, Echaniz-Laguna A, Misrahi M, Lacroix C; French Network for FAP.

Amyloid. 2012 Jun;19 Suppl 1:61-4. doi: 10.3109/13506129.2012.685665.

PMID:
22620968
15.

Familial amyloid polyneuropathy associated with nodular lumbosacral radiculoplexopathy.

Sole G, Casenave P, Vital C, Misrahi M, Ferrer X, Vital A.

J Peripher Nerv Syst. 2012 Mar;17(1):138-9. doi: 10.1111/j.1529-8027.2012.00385.x. No abstract available.

PMID:
22462677
16.

Array comparative genomic hybridization analysis of small supernumerary marker chromosomes in human infertility.

Guediche N, Tosca L, Kara Terki A, Bas C, Lecerf L, Young J, Briand-Suleau A, Tou B, Bouligand J, Brisset S, Misrahi M, Guiochon-Mantel A, Goossens M, Tachdjian G.

Reprod Biomed Online. 2012 Jan;24(1):72-82. doi: 10.1016/j.rbmo.2011.08.014. Epub 2011 Sep 10.

PMID:
22116069
17.

[Normal spermatogenesis in a patient with mutant luteinizing hormone].

Méduri G, Courtillot C, Lahuna O, Kuttenn F, Touraine P, Misrahi M.

Med Sci (Paris). 2010 Aug-Sep;26(8-9):690-3. doi: 10.1051/medsci/2010268-9690. French. No abstract available.

18.

Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls.

Brauner R, Bashamboo A, Rouget S, Goulet M, Philibert P, Sarda-Thibault H, Trivin C, Misrahi M, Sultan C, McElreavey K.

PLoS One. 2010 Jun 25;5(6):e11282. doi: 10.1371/journal.pone.0011282.

19.

Unusual virilization in girls with juvenile granulosa cell tumors of the ovary is related to intratumoral aromatase deficiency.

Kalfa N, Méduri G, Philibert P, Patte C, Boizet-Bonhoure B, Thibaut E, Pienkowski C, Jaubert F, Misrahi M, Sultan C.

Horm Res Paediatr. 2010;74(2):83-91. doi: 10.1159/000313396. Epub 2010 Apr 15.

PMID:
20395670
20.

Normal spermatogenesis in a man with mutant luteinizing hormone.

Achard C, Courtillot C, Lahuna O, Méduri G, Soufir JC, Lière P, Bachelot A, Benyounes H, Schumacher M, Kuttenn F, Touraine P, Misrahi M.

N Engl J Med. 2009 Nov 5;361(19):1856-63. doi: 10.1056/NEJMoa0805792.

21.

Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure.

Bachelot A, Rouxel A, Massin N, Dulon J, Courtillot C, Matuchansky C, Badachi Y, Fortin A, Paniel B, Lecuru F, Lefrère-Belda MA, Constancis E, Thibault E, Meduri G, Guiochon-Mantel A, Misrahi M, Kuttenn F, Touraine P; POF-GIS Study Group.

Eur J Endocrinol. 2009 Jul;161(1):179-87. doi: 10.1530/EJE-09-0231. Epub 2009 May 1.

PMID:
19411303
22.

Penetrance estimation of TTR familial amyloid polyneuropathy (type I) in Brazilian families.

Saporta MA, Zaros C, Cruz MW, André C, Misrahi M, Bonaïti-Pellié C, Planté-Bordeneuve V.

Eur J Neurol. 2009 Mar;16(3):337-41. doi: 10.1111/j.1468-1331.2008.02429.x.

PMID:
19364362
23.

Discordant expression of familial amyloid polyneuropathy in monozygotic Brazilian twins.

Saporta MA, Plante-Bordeneuve V, Misrahi M, Cruz MW.

Amyloid. 2009 Mar;16(1):38-41. doi: 10.1080/13506120802676955.

PMID:
19291513
24.

On the origin of the transthyretin Val30Met familial amyloid polyneuropathy.

Zaros C, Genin E, Hellman U, Saporta MA, Languille L, Wadington-Cruz M, Suhr O, Misrahi M, Planté-Bordeneuve V.

Ann Hum Genet. 2008 Jul;72(Pt 4):478-84. doi: 10.1111/j.1469-1809.2008.00439.x. Epub 2008 May 5.

25.

Molecular pathology of the FSH receptor: new insights into FSH physiology.

Meduri G, Bachelot A, Cocca MP, Vasseur C, Rodien P, Kuttenn F, Touraine P, Misrahi M.

Mol Cell Endocrinol. 2008 Jan 30;282(1-2):130-42. doi: 10.1016/j.mce.2007.11.027. Epub 2007 Dec 4. Review.

PMID:
18248882
26.

Evaluation of different markers of the ovarian reserve in patients presenting with premature ovarian failure.

Massin N, Méduri G, Bachelot A, Misrahi M, Kuttenn F, Touraine P.

Mol Cell Endocrinol. 2008 Jan 30;282(1-2):95-100. doi: 10.1016/j.mce.2007.11.017. Epub 2007 Nov 22.

PMID:
18191888
27.

Ultrastructural nuclear defects and increased chromosome aneuploidies in spermatozoa with elongated heads.

Prisant N, Escalier D, Soufir JC, Morillon M, Schoevaert D, Misrahi M, Tachdjian G.

Hum Reprod. 2007 Apr;22(4):1052-9. Epub 2007 Jan 5.

PMID:
17208942
28.

Serum anti-Müllerian hormone expression in women with premature ovarian failure.

Méduri G, Massin N, Guibourdenche J, Bachelot A, Fiori O, Kuttenn F, Misrahi M, Touraine P.

Hum Reprod. 2007 Jan;22(1):117-23. Epub 2006 Sep 5.

PMID:
16954410
29.

[Wilson's disease].

Duclos-Vallée JC, Ichaï P, Chapuis P, Misrahi M, Woimant F.

Rev Prat. 2006 Mar 15;56(5):469-74. Review. French.

PMID:
16729535
30.

Late onset of Wilson's disease in a family with genetic haemochromatosis.

Dib N, Valsesia E, Malinge MC, Mauras Y, Misrahi M, Calès P.

Eur J Gastroenterol Hepatol. 2006 Jan;18(1):43-7. Review.

PMID:
16357618
31.

[Wilson disease: clinical and biological aspects].

Chappuis P, Bost M, Misrahi M, Duclos-Vallée JC, Woimant F.

Ann Biol Clin (Paris). 2005 Sep-Oct;63(5):457-66. Review. French.

32.

Cytogenetic, molecular and testicular tissue studies in an infertile 45,X male carrying an unbalanced (Y;22) translocation: case report.

Brisset S, Izard V, Misrahi M, Aboura A, Madoux S, Ferlicot S, Schoevaert D, Soufir JC, Frydman R, Tachdjian G.

Hum Reprod. 2005 Aug;20(8):2168-72. Epub 2005 Apr 21.

PMID:
15845593
33.

Thyrotropin receptor trafficking relies on the hScrib-betaPIX-GIT1-ARF6 pathway.

Lahuna O, Quellari M, Achard C, Nola S, Méduri G, Navarro C, Vitale N, Borg JP, Misrahi M.

EMBO J. 2005 Apr 6;24(7):1364-74. Epub 2005 Mar 17.

34.

Ovarian steroidogenesis and serum androgen levels in patients with premature ovarian failure.

Bachelot A, Meduri G, Massin N, Misrahi M, Kuttenn F, Touraine P.

J Clin Endocrinol Metab. 2005 Apr;90(4):2391-6. Epub 2005 Jan 25.

PMID:
15671097
35.

Significance of ovarian histology in the management of patients presenting a premature ovarian failure.

Massin N, Gougeon A, Meduri G, Thibaud E, Laborde K, Matuchansky C, Constancis E, Vacher-Lavenu MC, Paniel B, Zorn JR, Misrahi M, Kuttenn F, Touraine P.

Hum Reprod. 2004 Nov;19(11):2555-60. Epub 2004 Aug 19.

PMID:
15319385
36.

[Primary ovarian failure and precocious menopause: genetic causes].

Misrahi M.

Ann Endocrinol (Paris). 2003 Nov;64(5 Pt 1):398-401. Review. French. No abstract available.

PMID:
15067755
37.

The basolateral sorting signals of the thyrotropin and luteinizing hormone receptors: an unusual family of signals sharing an unusual distal intracellular localization, but unrelated in their structures.

Beau I, Groyer-Picard MT, Desroches A, Condamine E, Leprince J, Tomé JP, Dessen P, Vaudry H, Misrahi M.

Mol Endocrinol. 2004 Mar;18(3):733-46. Epub 2003 Dec 23.

PMID:
14694083
38.

Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families.

Planté-Bordeneuve V, Carayol J, Ferreira A, Adams D, Clerget-Darpoux F, Misrahi M, Said G, Bonaïti-Pellié C.

J Med Genet. 2003 Nov;40(11):e120. No abstract available.

39.

A chorionic gonadotropin-sensitive mutation in the follicle-stimulating hormone receptor as a cause of familial gestational spontaneous ovarian hyperstimulation syndrome.

Vasseur C, Rodien P, Beau I, Desroches A, Gérard C, de Poncheville L, Chaplot S, Savagner F, Croué A, Mathieu E, Lahlou N, Descamps P, Misrahi M.

N Engl J Med. 2003 Aug 21;349(8):753-9. No abstract available.

40.

Role of cleavage and shedding in human thyrotropin receptor function and trafficking.

Quellari M, Desroches A, Beau I, Beaudeux E, Misrahi M.

Eur J Biochem. 2003 Sep;270(17):3486-97.

41.

Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: clinical, histological, and molecular studies.

Meduri G, Touraine P, Beau I, Lahuna O, Desroches A, Vacher-Lavenu MC, Kuttenn F, Misrahi M.

J Clin Endocrinol Metab. 2003 Aug;88(8):3491-8.

PMID:
12915623
42.

Functional characterization of the human FSH receptor with an inactivating Ala189Val mutation.

Rannikko A, Pakarinen P, Manna PR, Beau I, Misrahi M, Aittomäki K, Huhtaniemi I.

Mol Hum Reprod. 2002 Apr;8(4):311-7.

PMID:
11912278
43.

[Thyroid and Chernobyl].

Wémeau JL, Caron P, Helal B, Balarac N, Leenhardt L, Malthiery Y, Misrahi M, Niccoli-Sire P, Orgiazzi J, Rousset B, Sadoul JL, Toubert ME.

Ann Endocrinol (Paris). 2001 Nov;62(5):435-6. French. No abstract available.

PMID:
11852349
44.

Expression of the thyroid-stimulating hormone receptor in the folliculo-stellate cells of the human anterior pituitary.

Prummel MF, Brokken LJ, Meduri G, Misrahi M, Bakker O, Wiersinga WM.

J Clin Endocrinol Metab. 2000 Nov;85(11):4347-53.

PMID:
11095478
45.

CCR2B-64I chemokine receptor allele and mother-to-child HIV-1 transmission or disease progression in children. French pediatric HIV infection study group.

Teglas JP, N'Go N, Burgard M, Mayaux MJ, Rouzioux C, Blanche S, Delfraissy JF, Misrahi M.

J Acquir Immune Defic Syndr. 1999 Nov 1;22(3):267-71.

PMID:
10770347
46.

Loss of function mutations of the GnRH receptor: a new cause of hypogonadotropic hypogonadism.

de Roux N, Young J, Misrahi M, Schaison G, Milgrom E.

J Pediatr Endocrinol Metab. 1999 Apr;12 Suppl 1:267-75. Review.

PMID:
10698591
47.

Luteinizing hormone/human chorionic gonadotrophin receptors in various epidermal structures.

Venencie PY, Méduri G, Pissard S, Jolivet A, Loosfelt H, Milgrom E, Misrahi M.

Br J Dermatol. 1999 Sep;141(3):438-46.

PMID:
10583046
48.

New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype.

Touraine P, Beau I, Gougeon A, Meduri G, Desroches A, Pichard C, Detoeuf M, Paniel B, Prieur M, Zorn JR, Milgrom E, Kuttenn F, Misrahi M.

Mol Endocrinol. 1999 Nov;13(11):1844-54.

PMID:
10551778
49.

Autoantibodies interacting with purified native thyrotropin receptor.

Atger M, Misrahi M, Young J, Jolivet A, Orgiazzi J, Schaison G, Milgrom E.

Eur J Biochem. 1999 Nov;265(3):1022-31.

50.

Gonadotropin receptors.

Hai MV, De Roux N, Ghinea N, Beau I, Loosfelt H, Vannier B, Méduri G, Misrahi M, Milgrom E.

Ann Endocrinol (Paris). 1999 Jul;60(2):89-92. Review.

PMID:
10456178

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