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Items: 1 to 20 of 129

1.

Simple FISH-based evaluation of spermatic nuclear architecture shows an abnormal chromosomal organization in balanced chromosomal rearrangement carriers.

Mebrek ML, Clède S, de Chalus A, Heide S, Ruoso L, Rogers E, Lédée N, Prat-Ellenberg L, Cassuto NG, Siffroi JP, Rouen A.

J Assist Reprod Genet. 2020 Mar 20. doi: 10.1007/s10815-020-01736-3. [Epub ahead of print]

PMID:
32193768
2.

Association of Maternal First Trimester Serum Levels of Free Beta Human Chorionic Gonadotropin and Hypospadias: A Population Based Study.

Peycelon M, Lelong N, Carlier L, Monn FM, De Chalus A, Bonnard A, Rachid M, Houang M, Paye-Jaouen A, Ali L, Lecourbe A, Grapin C, Audry G, Legendre M, Muller F, Dreux S, El Ghoneimi A, Benachi A, Khoshnood B, Siffroi JP.

J Urol. 2019 Dec 19:101097JU0000000000000708. doi: 10.1097/JU.0000000000000708. [Epub ahead of print]

PMID:
31855125
3.

The NLRP3 p.A441V Mutation in NLRP3-AID Pathogenesis: Functional Consequences, Phenotype-Genotype Correlations and Evidence for a Recurrent Mutational Event.

Awad F, Assrawi E, Jumeau C, Odent S, Despert V, Cam G, Perdriger A, Louvrier C, Cobret L, Copin B, Chantot-Bastaraud S, Duquesnoy P, Piterboth W, Le Jeunne C, Quenum-Miraillet G, Siffroi JP, Georgin-Lavialle S, Grateau G, Legendre M, Giurgea I, Karabina SA, Amselem S.

ACR Open Rheumatol. 2019 Jun 6;1(4):267-276. doi: 10.1002/acr2.1039. eCollection 2019 Jun.

4.

A 14q distal chromoanagenesis elucidated by whole genome sequencing.

Ader F, Heide S, Marzin P, Afenjar A, Diguet F, Chantot Bastaraud S, Rollat-Farnier PA, Sanlaville D, Portnoï MF, Siffroi JP, Schluth-Bolard C.

Eur J Med Genet. 2019 Sep 25:103776. doi: 10.1016/j.ejmg.2019.103776. [Epub ahead of print]

PMID:
31562959
5.

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.

McElreavey K, Jorgensen A, Eozenou C, Merel T, Bignon-Topalovic J, Tan DS, Houzelstein D, Buonocore F, Warr N, Kay RGG, Peycelon M, Siffroi JP, Mazen I, Achermann JC, Shcherbak Y, Leger J, Sallai A, Carel JC, Martinerie L, Le Ru R, Conway GS, Mignot B, Van Maldergem L, Bertalan R, Globa E, Brauner R, Jauch R, Nef S, Greenfield A, Bashamboo A.

Genet Med. 2020 Jan;22(1):150-159. doi: 10.1038/s41436-019-0606-y. Epub 2019 Jul 24.

6.

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Moradkhani K, Cuisset L, Boisseau P, Pichon O, Lebrun M, Hamdi-Rozé H, Maurin ML, Gruchy N, Manca-Pellissier MC, Malzac P, Bilan F, Audrezet MP, Saugier-Veber P, Fauret-Amsellem AL, Missirian C, Kuentz P, Egea G, Guichet A, Creveaux I, Janel C, Harzallah I, Touraine R, Goumy C, Joyé N, Puechberty J, Haquet E, Chantot-Bastaraud S, Schmitt S, Gosset P, Duban-Bedu B, Delobel B, Vago P, Vialard F, Gomes DM, Siffroi JP, Bonnefont JP, Dupont JM, Jonveaux P, Doco-Fenzy M, Sanlaville D, Le Caignec C.

Prenat Diagn. 2019 Oct;39(11):986-992. doi: 10.1002/pd.5518. Epub 2019 Aug 19.

PMID:
31273809
7.

Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.

Whitfield M, Thomas L, Bequignon E, Schmitt A, Stouvenel L, Montantin G, Tissier S, Duquesnoy P, Copin B, Chantot S, Dastot F, Faucon C, Barbotin AL, Loyens A, Siffroi JP, Papon JF, Escudier E, Amselem S, Mitchell V, Touré A, Legendre M.

Am J Hum Genet. 2019 Jul 3;105(1):198-212. doi: 10.1016/j.ajhg.2019.04.015. Epub 2019 Jun 6.

8.

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Schluth-Bolard C, Diguet F, Chatron N, Rollat-Farnier PA, Bardel C, Afenjar A, Amblard F, Amiel J, Blesson S, Callier P, Capri Y, Collignon P, Cordier MP, Coubes C, Demeer B, Chaussenot A, Demurger F, Devillard F, Doco-Fenzy M, Dupont C, Dupont JM, Dupuis-Girod S, Faivre L, Gilbert-Dussardier B, Guerrot AM, Houlier M, Isidor B, Jaillard S, Joly-Hélas G, Kremer V, Lacombe D, Le Caignec C, Lebbar A, Lebrun M, Lesca G, Lespinasse J, Levy J, Malan V, Mathieu-Dramard M, Masson J, Masurel-Paulet A, Mignot C, Missirian C, Morice-Picard F, Moutton S, Nadeau G, Pebrel-Richard C, Odent S, Paquis-Flucklinger V, Pasquier L, Philip N, Plutino M, Pons L, Portnoï MF, Prieur F, Puechberty J, Putoux A, Rio M, Rooryck-Thambo C, Rossi M, Sarret C, Satre V, Siffroi JP, Till M, Touraine R, Toutain A, Toutain J, Valence S, Verloes A, Whalen S, Edery P, Tabet AC, Sanlaville D.

J Med Genet. 2019 Aug;56(8):526-535. doi: 10.1136/jmedgenet-2018-105778. Epub 2019 Mar 28.

PMID:
30923172
9.

[Atypical genital development and tumor risk].

Faure Conter C, Brindusa Gorduza D, Mure PY, Pracros JP, Mouriquand P, Bouvattier C, Siffroi JP, Plotton I, Gay CL, Cools M, Dijoud F.

Bull Cancer. 2019 May;106(5):461-467. doi: 10.1016/j.bulcan.2019.01.018. Epub 2019 Mar 23. Review. French.

PMID:
30910228
10.

Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis.

Pierron L, Irrmann A, de Chalus A, Bloch A, Heide S, Rogers E, Lédée N, Prat-Ellenberg L, Coussement A, Dupont JM, Cassuto NG, Siffroi JP, Rouen A.

J Assist Reprod Genet. 2019 May;36(5):973-978. doi: 10.1007/s10815-019-01430-z. Epub 2019 Mar 8.

PMID:
30850901
11.

Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?

Dumeige L, Chatelais L, Bouvattier C, De Kerdanet M, Hyon C, Esteva B, Samara-Boustani D, Zenaty D, Nicolino M, Baron S, Metz-Blond C, Naud-Saudreau C, Dupuis C, Léger J, Siffroi JP, Donadille B, Christin-Maitre S, Carel JC, Coutant R, Martinerie L.

Eur J Endocrinol. 2018 Sep;179(3):181-190. doi: 10.1530/EJE-18-0309. Epub 2018 Jul 4.

PMID:
29973376
12.

Impact on testicular function of a single ablative activity of 3.7 GBq radioactive iodine for differentiated thyroid carcinoma.

Bourcigaux N, Rubino C, Berthaud I, Toubert ME, Donadille B, Leenhardt L, Petrot-Keller I, Brailly-Tabard S, Fromigué J, de Vathaire F, Simon T, Siffroi JP, Schlumberger M, Bouchard P, Christin-Maitre S.

Hum Reprod. 2018 Aug 1;33(8):1408-1416. doi: 10.1093/humrep/dey222.

PMID:
29912343
13.

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.

Bashamboo A, Eozenou C, Jorgensen A, Bignon-Topalovic J, Siffroi JP, Hyon C, Tar A, Nagy P, Sólyom J, Halász Z, Paye-Jaouen A, Lambert S, Rodriguez-Buritica D, Bertalan R, Martinerie L, Rajpert-De Meyts E, Achermann JC, McElreavey K.

Am J Hum Genet. 2018 Mar 1;102(3):487-493. doi: 10.1016/j.ajhg.2018.01.021. Epub 2018 Feb 22.

14.

Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit.

Donadille B, Houang M, Netchine I, Siffroi JP, Christin-Maitre S.

Endocr Connect. 2018 Mar;7(3):395-402. doi: 10.1530/EC-17-0306. Epub 2018 Feb 2.

15.

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

Portnoi MF, Dumargne MC, Rojo S, Witchel SF, Duncan AJ, Eozenou C, Bignon-Topalovic J, Yatsenko SA, Rajkovic A, Reyes-Mugica M, Almstrup K, Fusee L, Srivastava Y, Chantot-Bastaraud S, Hyon C, Louis-Sylvestre C, Validire P, de Malleray Pichard C, Ravel C, Christin-Maitre S, Brauner R, Rossetti R, Persani L, Charreau EH, Dain L, Chiauzzi VA, Mazen I, Rouba H, Schluth-Bolard C, MacGowan S, McLean WHI, Patin E, Rajpert-De Meyts E, Jauch R, Achermann JC, Siffroi JP, McElreavey K, Bashamboo A.

Hum Mol Genet. 2018 Apr 1;27(7):1228-1240. doi: 10.1093/hmg/ddy037.

16.

Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias.

Peycelon M, Mansour-Hendili L, Hyon C, Collot N, Houang M, Legendre M, Chabaud M, Bouvier MD, Audry G, Amselem S, Siffroi JP.

Sex Dev. 2017;11(5-6):293-297. doi: 10.1159/000485909. Epub 2018 Jan 13.

PMID:
29332064
17.

Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.

Heide S, Chantot-Bastaraud S, Keren B, Harbison MD, Azzi S, Rossignol S, Michot C, Lackmy-Port Lys M, Demeer B, Heinrichs C, Newfield RS, Sarda P, Van Maldergem L, Trifard V, Giabicani E, Siffroi JP, Le Bouc Y, Netchine I, Brioude F.

J Med Genet. 2018 Mar;55(3):205-213. doi: 10.1136/jmedgenet-2017-104919. Epub 2017 Dec 9.

PMID:
29223973
18.

How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.

Schwartz M, Sternberg D, Whalen S, Afenjar A, Isapof A, Chabrol B, Portnoï MF, Heide S, Keren B, Chantot-Bastaraud S, Siffroi JP.

Am J Med Genet A. 2018 Jan;176(1):151-155. doi: 10.1002/ajmg.a.38515. Epub 2017 Nov 12.

PMID:
29130637
19.

Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly.

Lavillaureix A, Heide S, Chantot-Bastaraud S, Marey I, Keren B, Grigorescu R, Jouannic JM, Gelot A, Whalen S, Héron D, Siffroi JP.

Clin Genet. 2017 Nov;92(5):556-558. doi: 10.1111/cge.13062. Epub 2017 Aug 1. No abstract available.

PMID:
28762477
20.

Potential selection of genetically balanced spermatozoa based on the hypo-osmotic swelling test in chromosomal rearrangement carriers.

Rouen A, Carlier L, Heide S, Egloff M, Marzin P, Ader F, Schwartz M, Rogers E, Joyé N, Balet R, Lédée N, Prat-Ellenberg L, Cassuto NG, Siffroi JP.

Reprod Biomed Online. 2017 Oct;35(4):372-378. doi: 10.1016/j.rbmo.2017.06.017. Epub 2017 Jun 27.

PMID:
28711302

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