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Search life-sciences literature (45,100,050 articles, preprints and more)

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Identification and Characterization of Novel FSHR Copy Number Variations Causing Premature Ovarian Insufficiency.
Lokchine A, Bergougnoux A, Servant N, Akloul L, Launay E, Mary L, Cluzeau L, Philippe M, Domin-Bernhard M, Duros S, Odent S, Tucker E, Paris F, Belaud-Rotureau MA, Jaillard S
Am J Med Genet A, e63924, 04 Nov 2024
Cited by: 0 articles | PMID: 39497500
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Optimizing care for MRKH patients: From malformation screening to uterus transplantation eligibility.
Cospain A, Dion L, Bidet M, Nyangoh Timoh K, Quelin C, Carton I, Lavillaureix A, Morcel K, Rollier P, Pasquier L, Nouyou B, Odent S, Guerrier D, Launay E, Belaud Rotureau MA, Fradin M, Jaillard S, Lavoué V
Acta Obstet Gynecol Scand, 09 Oct 2024
Cited by: 0 articles | PMID: 39382201
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Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples.
Mary L, Fradin M, Pasquier L, Quelin C, Loget P, Le Lous M, Le Bouar G, Nivot-Adamiak S, Lokchine A, Dubourg C, Jauffret V, Nouyou B, Henry C, Launay E, Odent S, Jaillard S, Belaud-Rotureau MA
Eur J Med Genet, 66(6):104748, 21 Mar 2023
Cited by: 0 articles | PMID: 36948288
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Gene Editing Corrects In Vitro a G > A GLB1 Transition from a GM1 Gangliosidosis Patient.
Leclerc D, Goujon L, Jaillard S, Nouyou B, Cluzeau L, Damaj L, Dubourg C, Etcheverry A, Levade T, Froissart R, Dréano S, Guillory X, Eriksson LA, Launay E, Mouriaux F, Belaud-Rotureau MA, Odent S, Gilot D
CRISPR J, 6(1):17-31, 11 Jan 2023
Cited by: 0 articles | PMID: 36629845 | PMCID: PMC9986017
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Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing.
Mary L, Leclerc D, Labalme A, Bellaud P, Mazaud-Guittot S, Dréano S, Evrard B, Bigand A, Cauchoix A, Loget P, Lokchine A, Cluzeau L, Gilot D, Belaud-Rotureau MA, Jaillard S
Genes (Basel), 14(2):273, 20 Jan 2023
Cited by: 1 article | PMID: 36833200 | PMCID: PMC9956894
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LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss.
Neyroud AS, Rudinger-Thirion J, Frugier M, Riley LG, Bidet M, Akloul L, Simpson A, Gilot D, Christodoulou J, Ravel C, Sinclair AH, Belaud-Rotureau MA, Tucker EJ, Jaillard S
Eur J Hum Genet, 31(4):453-460, 01 Dec 2022
Cited by: 8 articles | PMID: 36450801 | PMCID: PMC10133321
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Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature.
Capron C, Januel L, Vieville G, Jaillard S, Kuentz P, Salaun G, Nadeau G, Clement P, Brechard MP, Herve B, Dupont JM, Gruchy N, Chambon P, Abdelhedi F, Dahlen E, Vago P, Harbuz R, Plotton I, Coutton C, [...] Vialard F
Andrology, 10(8):1625-1631, 07 Sep 2022
Cited by: 2 articles | PMID: 36026611
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Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.
Tucker EJ, Gutfreund N, Belaud-Rotureau MA, Gilot D, Brun T, Kline BL, Bell KM, Domin-Bernhard M, Théard C, Touraine P, Robevska G, van van den Bergen J, Ayers KL, Sinclair AH, Dötsch V, Jaillard S
Hum Mutat, 43(10):1443-1453, 29 Jul 2022
Cited by: 10 articles | PMID: 35801529 | PMCID: PMC9542062
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Comprehensive study of nine novel cases of TFEB-amplified renal cell carcinoma: an aggressive tumour with frequent PDL1 expression.
Kammerer-Jacquet SF, Gandon C, Dugay F, Laguerre B, Peyronnet B, Mathieu R, Verhoest G, Bensalah K, Leroy X, Aubert S, Vermaut C, Escande F, Verkarre V, Compérat E, Ambrosetti D, Pedeutour F, Belaud-Rotureau MA, Rioux-Leclercq N, members of CARARE French network (Rare Renal Carcinoma in Adults) of the INCa (National Institut of Cancer, France)
Histopathology, 81(2):228-238, 13 Jun 2022
Cited by: 6 articles | PMID: 35562857
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The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects.
Mary L, Leclerc D, Gilot D, Belaud-Rotureau MA, Jaillard S
Hum Mutat, 43(9):1125-1148, 18 May 2022
Cited by: 5 articles | PMID: 35451537
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Pseudodicentric Chromosome Originating from an X-Autosome Translocation in a Male Patient with Cryptozoospermia.
Toujani S, Tucker EJ, Akloul L, Mary L, Pimentel C, Launay E, Freton L, Jouve G, Henry C, Odent S, Belaud-Rotureau MA, Jaillard S
Cytogenet Genome Res, 162(3):124-131, 24 May 2022
Cited by: 1 article | PMID: 35609520
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Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases.
Mary L, Lavillaureix A, Perrot A, Loget P, Launay E, Leborgne AS, Demurger F, Fradin M, Le Bouar G, Quélin C, Dubourg C, Pasquier L, Odent S, Belaud-Rotureau MA, Jaillard S
Eur J Med Genet, 65(2):104422, 10 Jan 2022
Cited by: 2 articles | PMID: 35026468
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Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.
Tucker EJ, Bell KM, Robevska G, van den Bergen J, Ayers KL, Listyasari N, Faradz SM, Dulon J, Bakhshalizadeh S, Sreenivasan R, Nouyou B, Carre W, Akloul L, Duros S, Domin-Bernhard M, Belaud-Rotureau MA, Touraine P, Jaillard S, Sinclair AH
Eur J Hum Genet, 30(2):219-228, 28 Oct 2021
Cited by: 17 articles | PMID: 34707299 | PMCID: PMC8821714
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[Renal carcinoma with leiomyomatous stroma and osseous metaplasia from a patient diagnosed with a tuberous sclerosis complex].
Gandon C, Gournay M, Dugay F, Bensalah K, Mathieu R, Verhoest G, Peyronnet B, Belaud-Rotureau MA, Rioux-Leclercq N, Kammerer-Jacquet SF
Ann Pathol, 41(6):557-560, 08 Oct 2021
Cited by: 1 article | PMID: 34629215
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Multicolor-FISH Characterization of a Prenatal Mosaicism for a Chromosomal Rearrangement Undetected by Molecular Cytogenetics.
Mary L, Loget P, Odent S, Aussel D, Le Bouar G, Launay E, Henry C, Belaud-Rotureau MA, Jaillard S
Cytogenet Genome Res, 161(3-4):143-152, 07 Apr 2021
Cited by: 2 articles | PMID: 33827072
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Multiple metastatic clones assessed by an integrative multiomics strategy in clear cell renal carcinoma: a case study.
Dagher J, Brunot A, Evrard B, Kammerer-Jacquet SF, Beaumont M, Cornevin L, Derquin F, Verhoest G, Bensalah K, Lespagnol A, Dugay F, Belaud-Rotureau MA, Chalmel F, Rioux-Leclercq N
J Clin Pathol, 75(6):426-430, 25 Mar 2021
Cited by: 1 article | PMID: 33766955
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Antenatal finding of 16q24.1 duplication including FOXF1, revealing an autosomal dominant familial pathology with congenital short bowel, malrotation and renal abnormalities.
Lavillaureix A, Foulon G, Launay E, Belaud-Rotureau MA, Thibault R, Lambe C, Aussel D, Pasquier L, Odent S, Arnaud A, Habonimana E, Dabadie A, Jaillard S
Clin Res Hepatol Gastroenterol, 45(5):101562, 15 Nov 2020
Cited by: 0 articles | PMID: 33208297
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Renal cell carcinoma with leiomyomatous stroma in tuberous sclerosis complex: a distinct entity.
Gournay M, Dugay F, Belaud-Rotureau MA, Peyronnet B, Mathieu R, Verhoest G, Bensalah K, Odent S, Denizeau P, Vigneau C, Morini A, Rioux-Leclercq N, Kammerer-Jacquet SF
Virchows Arch, 478(4):793-799, 26 Aug 2020
Cited by: 3 articles | PMID: 32845354
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STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.
Jaillard S, McElreavy K, Robevska G, Akloul L, Ghieh F, Sreenivasan R, Beaumont M, Bashamboo A, Bignon-Topalovic J, Neyroud AS, Bell K, Veron-Gastard E, Launay E, van den Bergen J, Nouyou B, Vialard F, Belaud-Rotureau MA, Ayers KL, Odent S, [...] Sinclair AH
Mol Hum Reprod, 26(9):665-677, 01 Sep 2020
Cited by: 20 articles | PMID: 32634216
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New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing.
Jaillard S, Bell K, Akloul L, Walton K, McElreavy K, Stocker WA, Beaumont M, Harrisson C, Jääskeläinen T, Palvimo JJ, Robevska G, Launay E, Satié AP, Listyasari N, Bendavid C, Sreenivasan R, Duros S, van den Bergen J, Henry C, [...] Sinclair AH
Maturitas, 141:9-19, 20 Jun 2020
Cited by: 32 articles | PMID: 33036707
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Immunotherapy in Renal Cell Carcinoma: The Future Is Now.
Deleuze A, Saout J, Dugay F, Peyronnet B, Mathieu R, Verhoest G, Bensalah K, Crouzet L, Laguerre B, Belaud-Rotureau MA, Rioux-Leclercq N, Kammerer-Jacquet SF
Int J Mol Sci, 21(7):E2532, 05 Apr 2020
Cited by: 121 articles | PMID: 32260578 | PMCID: PMC7177761
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This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia.
Beaumont M, Tucker EJ, Mary L, Launay E, Lurton Y, Pimentel C, Rollier P, Akloul L, Beneteau C, Chevallier-Bordeau S, Neyroud AS, Pichon O, Ravel C, Odent S, Belaud-Rotureau MA, Jaillard S
Cytogenet Genome Res, 159(4):201-207, 20 Dec 2019
Cited by: 2 articles | PMID: 31865337
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Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility.
Jaillard S, Sreenivasan R, Beaumont M, Robevska G, Dubourg C, Knarston IM, Akloul L, van den Bergen J, Odent S, Croft B, Jouve G, Grover SR, Duros S, Pimentel C, Belaud-Rotureau MA, Ayers KL, Ravel C, Tucker EJ, Sinclair AH
Maturitas, 131:78-86, 09 Nov 2019
Cited by: 18 articles | PMID: 31787151
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Diagnosis of uncommon renal epithelial neoplasms: performances of fluorescence in situ hybridization.
Beaumont M, Dugay F, Kammerer-Jacquet SF, Jaillard S, Cabillic F, Mathieu R, Verhoest G, Bensalah K, Rioux-Leclercq N, Belaud-Rotureau MA, CARARE French network (Rare Renal Carcinoma in Adults) of the INCa (National Institute of Cancer, France)
Hum Pathol, 92:81-90, 20 Aug 2019
Cited by: 4 articles | PMID: 31437522
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Targeting the PD-1/PD-L1 Pathway in Renal Cell Carcinoma.
Kammerer-Jacquet SF, Deleuze A, Saout J, Mathieu R, Laguerre B, Verhoest G, Dugay F, Belaud-Rotureau MA, Bensalah K, Rioux-Leclercq N
Int J Mol Sci, 20(7):E1692, 04 Apr 2019
Cited by: 40 articles | PMID: 30987368 | PMCID: PMC6480014
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This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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1-25 of 86 results

1 2 3 Next ...

Search life-sciences literature (45,100,050 articles, preprints and more)

Search results

Identification and Characterization of Novel FSHR Copy Number Variations Causing Premature Ovarian Insufficiency.

Optimizing care for MRKH patients: From malformation screening to uterus transplantation eligibility.

Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples.

Gene Editing Corrects In Vitro a G > A GLB1 Transition from a GM1 Gangliosidosis Patient.

Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing.

LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss.

Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature.

Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.

Comprehensive study of nine novel cases of TFEB-amplified renal cell carcinoma: an aggressive tumour with frequent PDL1 expression.

The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects.

Pseudodicentric Chromosome Originating from an X-Autosome Translocation in a Male Patient with Cryptozoospermia.

Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases.

Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.

[Renal carcinoma with leiomyomatous stroma and osseous metaplasia from a patient diagnosed with a tuberous sclerosis complex].

Multicolor-FISH Characterization of a Prenatal Mosaicism for a Chromosomal Rearrangement Undetected by Molecular Cytogenetics.

Multiple metastatic clones assessed by an integrative multiomics strategy in clear cell renal carcinoma: a case study.

Antenatal finding of 16q24.1 duplication including FOXF1, revealing an autosomal dominant familial pathology with congenital short bowel, malrotation and renal abnormalities.

Renal cell carcinoma with leiomyomatous stroma in tuberous sclerosis complex: a distinct entity.

STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.

New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing.

Immunotherapy in Renal Cell Carcinoma: The Future Is Now.

Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia.

Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility.

Diagnosis of uncommon renal epithelial neoplasms: performances of fluorescence in situ hybridization.

Targeting the PD-1/PD-L1 Pathway in Renal Cell Carcinoma.

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