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Showing 1 to 12 of 14 entries
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Sex-determining genes.

Trends in endocrinology and metabolism: TEM

McElreavey K, Fellous M.
PMID: 18406823
Trends Endocrinol Metab. 1997 Nov;8(9):342-6. doi: 10.1016/s1043-2760(97)00135-5.

Recently, a number of genes have been identified that are associated with a failure of human sex determination, including WT1, DAX-1, SOX9, ATRX, and the Y-linked testis determination gene, SRY. Most cases of human sex reversal, XY females and...

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McElreavey K, Fellous M. Sex-determining genes. Trends Endocrinol Metab. 1997;8(9):342-6doi: 10.1016/s1043-2760(97)00135-5.
McElreavey, K., & Fellous, M. (1997). Sex-determining genes. Trends in endocrinology and metabolism: TEM, 8(9), 342-6. https://doi.org/10.1016/s1043-2760(97)00135-5
McElreavey, K, and Fellous, M. "Sex-determining genes." Trends in endocrinology and metabolism: TEM vol. 8,9 (1997): 342-6. doi: https://doi.org/10.1016/s1043-2760(97)00135-5
McElreavey K, Fellous M. Sex-determining genes. Trends Endocrinol Metab. 1997 Nov;8(9):342-6. doi: 10.1016/s1043-2760(97)00135-5. PMID: 18406823.
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Mechanisms of reduced susceptibility and genotypic prediction of antibiotic resistance in Prevotella isolated from cystic fibrosis (CF) and non-CF patients.

The Journal of antimicrobial chemotherapy

Sherrard LJ, Schaible B, Graham KA, McGrath SJ, McIlreavey L, Hatch J, Wolfgang MC, Muhlebach MS, Gilpin DF, Schneiders T, Stuart Elborn J, Tunney MM.
PMID: 30351435
J Antimicrob Chemother. 2018 Nov 01;73(11):3218. doi: 10.1093/jac/dky313.

No abstract available.

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Sherrard LJ, Schaible B, Graham KA, et al. Mechanisms of reduced susceptibility and genotypic prediction of antibiotic resistance in Prevotella isolated from cystic fibrosis (CF) and non-CF patients. J Antimicrob Chemother. 2018;73(11):3218doi: 10.1093/jac/dky313.
Sherrard, L. J., Schaible, B., Graham, K. A., McGrath, S. J., McIlreavey, L., Hatch, J., Wolfgang, M. C., Muhlebach, M. S., Gilpin, D. F., Schneiders, T., Stuart Elborn, J., & Tunney, M. M. (2018). Mechanisms of reduced susceptibility and genotypic prediction of antibiotic resistance in Prevotella isolated from cystic fibrosis (CF) and non-CF patients. The Journal of antimicrobial chemotherapy, 73(11), 3218. https://doi.org/10.1093/jac/dky313
Sherrard, Laura J, et al. "Mechanisms of reduced susceptibility and genotypic prediction of antibiotic resistance in Prevotella isolated from cystic fibrosis (CF) and non-CF patients." The Journal of antimicrobial chemotherapy vol. 73,11 (2018): 3218. doi: https://doi.org/10.1093/jac/dky313
Sherrard LJ, Schaible B, Graham KA, McGrath SJ, McIlreavey L, Hatch J, Wolfgang MC, Muhlebach MS, Gilpin DF, Schneiders T, Stuart Elborn J, Tunney MM. Mechanisms of reduced susceptibility and genotypic prediction of antibiotic resistance in Prevotella isolated from cystic fibrosis (CF) and non-CF patients. J Antimicrob Chemother. 2018 Nov 01;73(11):3218. doi: 10.1093/jac/dky313. PMID: 30351435; PMCID: PMC6927872.
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Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism.

Frontiers in pediatrics

Brauner R, Bignon-Topalovic J, Bashamboo A, McElreavey K.
PMID: 34055685
Front Pediatr. 2021 May 07;9:641397. doi: 10.3389/fped.2021.641397. eCollection 2021.

No abstract available.

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Brauner R, Bignon-Topalovic J, Bashamboo A, et al. Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism. Front Pediatr. 2021;9:641397doi: 10.3389/fped.2021.641397.
Brauner, R., Bignon-Topalovic, J., Bashamboo, A., & McElreavey, K. (2021). Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism. Frontiers in pediatrics, 9641397. https://doi.org/10.3389/fped.2021.641397
Brauner, Raja, et al. "Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism." Frontiers in pediatrics vol. 9 (2021): 641397. doi: https://doi.org/10.3389/fped.2021.641397
Brauner R, Bignon-Topalovic J, Bashamboo A, McElreavey K. Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism. Front Pediatr. 2021 May 07;9:641397. doi: 10.3389/fped.2021.641397. eCollection 2021. PMID: 34055685; PMCID: PMC8149944.
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Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Zidoune H, Martinerie L, Tan DS, Askari M, Rezgoune D, Ladjouze A, Boukri A, Benelmadani Y, Sifi K, Abadi N, Satta D, Rastari M, Seresht-Ahmadi M, Bignon-Topalovic J, Mazen I, Leger J, Simon D, Brauner R, Totonchi M, Jauch R, Bashamboo A, McElreavey K.
PMID: 34293745
Sex Dev. 2021;15(4):244-252. doi: 10.1159/000515924. Epub 2021 Jul 22.

Missense variants in the RNA-helicase DHX37 are associated with either 46,XY gonadal dysgenesis or 46,XY testicular regression syndrome (TRS). DHX37 is required for ribosome biogenesis, and this subgroup of XY DSD is a new human ribosomopathy. In a cohort...

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Zidoune H, Martinerie L, Tan DS, et al. Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37. Sex Dev. 2021;15(4):244-252doi: 10.1159/000515924.
Zidoune, H., Martinerie, L., Tan, D. S., Askari, M., Rezgoune, D., Ladjouze, A., Boukri, A., Benelmadani, Y., Sifi, K., Abadi, N., Satta, D., Rastari, M., Seresht-Ahmadi, M., Bignon-Topalovic, J., Mazen, I., Leger, J., Simon, D., Brauner, R., Totonchi, M., Jauch, R., Bashamboo, A., & McElreavey, K. (2021). Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37. Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation, 15(4), 244-252. https://doi.org/10.1159/000515924
Zidoune, Housna, et al. "Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37." Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation vol. 15,4 (2021): 244-252. doi: https://doi.org/10.1159/000515924
Zidoune H, Martinerie L, Tan DS, Askari M, Rezgoune D, Ladjouze A, Boukri A, Benelmadani Y, Sifi K, Abadi N, Satta D, Rastari M, Seresht-Ahmadi M, Bignon-Topalovic J, Mazen I, Leger J, Simon D, Brauner R, Totonchi M, Jauch R, Bashamboo A, McElreavey K. Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37. Sex Dev. 2021;15(4):244-252. doi: 10.1159/000515924. Epub 2021 Jul 22. PMID: 34293745.
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Oligogenic Inheritance Underlying Incomplete Penetrance of .

Frontiers in genetics

Mkaouar R, Abdallah LCB, Naouali C, Lahbib S, Turki Z, Elouej S, Bouyacoub Y, Somai M, Mcelreavey K, Bashamboo A, Abdelhak S, Messaoud O.
PMID: 34539727
Front Genet. 2021 Sep 03;12:665174. doi: 10.3389/fgene.2021.665174. eCollection 2021.

The role of the prokineticin 2 pathway in human reproduction, olfactory bulb morphogenesis, and gonadotropin-releasing hormone secretion is well established. Recent studies have highlighted the implication of di/oligogenic inheritance in this disorder. In the present study, we aimed to...

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Mkaouar R, Abdallah LCB, Naouali C, et al. Oligogenic Inheritance Underlying Incomplete Penetrance of . Front Genet. 2021;12:665174doi: 10.3389/fgene.2021.665174.
Mkaouar, R., Abdallah, L. C. B., Naouali, C., Lahbib, S., Turki, Z., Elouej, S., Bouyacoub, Y., Somai, M., Mcelreavey, K., Bashamboo, A., Abdelhak, S., & Messaoud, O. (2021). Oligogenic Inheritance Underlying Incomplete Penetrance of . Frontiers in genetics, 12665174. https://doi.org/10.3389/fgene.2021.665174
Mkaouar, Rahma, et al. "Oligogenic Inheritance Underlying Incomplete Penetrance of ." Frontiers in genetics vol. 12 (2021): 665174. doi: https://doi.org/10.3389/fgene.2021.665174
Mkaouar R, Abdallah LCB, Naouali C, Lahbib S, Turki Z, Elouej S, Bouyacoub Y, Somai M, Mcelreavey K, Bashamboo A, Abdelhak S, Messaoud O. Oligogenic Inheritance Underlying Incomplete Penetrance of . Front Genet. 2021 Sep 03;12:665174. doi: 10.3389/fgene.2021.665174. eCollection 2021. PMID: 34539727; PMCID: PMC8446458.
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Monogenic forms of DSD: An update.

Hormone research in paediatrics

McElreavey K, Bashamboo A.
PMID: 34963118
Horm Res Paediatr. 2021 Dec 28; doi: 10.1159/000521381. Epub 2021 Dec 28.

DSD encompasses a wide range of pathologies that impact gonad formation, development and function in both 46,XX and 46,XY individuals. The majority of these conditions are considered to be monogenic, although the expression of the phenotype may be influenced...

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McElreavey K, Bashamboo A. Monogenic forms of DSD: An update. Horm Res Paediatr. 2021;doi: 10.1159/000521381.
McElreavey, K., & Bashamboo, A. (2021). Monogenic forms of DSD: An update. Hormone research in paediatrics, . https://doi.org/10.1159/000521381
McElreavey, Kenneth, and Bashamboo, Anu. "Monogenic forms of DSD: An update." Hormone research in paediatrics vol. (2021). doi: https://doi.org/10.1159/000521381
McElreavey K, Bashamboo A. Monogenic forms of DSD: An update. Horm Res Paediatr. 2021 Dec 28; doi: 10.1159/000521381. Epub 2021 Dec 28. PMID: 34963118.
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Understanding inherited disease through human migrations: a south-west Asian perspective.

Community genetics

McElreavey K, Quintana-Murci L.
PMID: 14960883
Community Genet. 2002;5(3):153-6. doi: 10.1159/000066328.

Mitochondrial DNA (mtDNA) and the Y chromosome are inherited in a haploid manner and have been used extensively to reconstruct human lineages. mtDNA and the majority of the Y chromosome lack recombination and show high rates of apparently neutral...

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McElreavey K, Quintana-Murci L. Understanding inherited disease through human migrations: a south-west Asian perspective. Community Genet. 2002;5(3):153-6doi: 10.1159/000066328.
McElreavey, K., & Quintana-Murci, L. (2002). Understanding inherited disease through human migrations: a south-west Asian perspective. Community genetics, 5(3), 153-6. https://doi.org/10.1159/000066328
McElreavey, K, and Quintana-Murci, L. "Understanding inherited disease through human migrations: a south-west Asian perspective." Community genetics vol. 5,3 (2002): 153-6. doi: https://doi.org/10.1159/000066328
McElreavey K, Quintana-Murci L. Understanding inherited disease through human migrations: a south-west Asian perspective. Community Genet. 2002;5(3):153-6. doi: 10.1159/000066328. PMID: 14960883.
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Identification of a Novel Mutation of .

Annals of dermatology

Laroussi N, Messaoud O, Chargui M, Ben Fayala C, Elahlafi A, Mokni M, Bashamboo A, McElreavey K, Boubaker MS, Yacoub Youssef H, Abdelhak S.
PMID: 28392661
Ann Dermatol. 2017 Apr;29(2):243-246. doi: 10.5021/ad.2017.29.2.243. Epub 2017 Mar 24.

No abstract available.

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Laroussi N, Messaoud O, Chargui M, et al. Identification of a Novel Mutation of . Ann Dermatol. 2017;29(2):243-246doi: 10.5021/ad.2017.29.2.243.
Laroussi, N., Messaoud, O., Chargui, M., Ben Fayala, C., Elahlafi, A., Mokni, M., Bashamboo, A., McElreavey, K., Boubaker, M. S., Yacoub Youssef, H., & Abdelhak, S. (2017). Identification of a Novel Mutation of . Annals of dermatology, 29(2), 243-246. https://doi.org/10.5021/ad.2017.29.2.243
Laroussi, Nadia, et al. "Identification of a Novel Mutation of ." Annals of dermatology vol. 29,2 (2017): 243-246. doi: https://doi.org/10.5021/ad.2017.29.2.243
Laroussi N, Messaoud O, Chargui M, Ben Fayala C, Elahlafi A, Mokni M, Bashamboo A, McElreavey K, Boubaker MS, Yacoub Youssef H, Abdelhak S. Identification of a Novel Mutation of . Ann Dermatol. 2017 Apr;29(2):243-246. doi: 10.5021/ad.2017.29.2.243. Epub 2017 Mar 24. PMID: 28392661; PMCID: PMC5383759.
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The role of next generation sequencing in understanding male and female sexual development: clinical implications.

Expert review of endocrinology & metabolism

Bashamboo A, McElreavey K.
PMID: 30058910
Expert Rev Endocrinol Metab. 2016 Sep;11(5):433-443. doi: 10.1080/17446651.2016.1220299. Epub 2016 Aug 17.

INTRODUCTION: Next Generation Sequencing is revolutionising our understanding of variation in the human genome and as costs reduce the sequencing of patient's genomes is become more routine. Areas covered: Here, we review the current challenges in the field and...

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Bashamboo A, McElreavey K. The role of next generation sequencing in understanding male and female sexual development: clinical implications. Expert Rev Endocrinol Metab. 2016;11(5):433-443doi: 10.1080/17446651.2016.1220299.
Bashamboo, A., & McElreavey, K. (2016). The role of next generation sequencing in understanding male and female sexual development: clinical implications. Expert review of endocrinology & metabolism, 11(5), 433-443. https://doi.org/10.1080/17446651.2016.1220299
Bashamboo, Anu, and McElreavey, Ken. "The role of next generation sequencing in understanding male and female sexual development: clinical implications." Expert review of endocrinology & metabolism vol. 11,5 (2016): 433-443. doi: https://doi.org/10.1080/17446651.2016.1220299
Bashamboo A, McElreavey K. The role of next generation sequencing in understanding male and female sexual development: clinical implications. Expert Rev Endocrinol Metab. 2016 Sep;11(5):433-443. doi: 10.1080/17446651.2016.1220299. Epub 2016 Aug 17. PMID: 30058910.
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RNAscope .

Oncotarget

Bingham V, McIlreavey L, Greene C, O'Doherty E, Clarke R, Craig S, Salto-Tellez M, McQuaid S, Lewis C, James J.
PMID: 29212158
Oncotarget. 2017 Oct 16;8(55):93392-93403. doi: 10.18632/oncotarget.21851. eCollection 2017 Nov 07.

Immunohistochemistry remains the overwhelming technique of choice for test biomarker evaluation in both clinical or research settings when using formalin-fixed, paraffin embedded tissue sections. However, validations can be complex with significant issues about specificity, sensitivity and reproducibility. The vast...

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Bingham V, McIlreavey L, Greene C, et al. RNAscope . Oncotarget. 2017;8(55):93392-93403doi: 10.18632/oncotarget.21851.
Bingham, V., McIlreavey, L., Greene, C., O'Doherty, E., Clarke, R., Craig, S., Salto-Tellez, M., McQuaid, S., Lewis, C., & James, J. (2017). RNAscope . Oncotarget, 8(55), 93392-93403. https://doi.org/10.18632/oncotarget.21851
Bingham, Victoria, et al. "RNAscope ." Oncotarget vol. 8,55 (2017): 93392-93403. doi: https://doi.org/10.18632/oncotarget.21851
Bingham V, McIlreavey L, Greene C, O'Doherty E, Clarke R, Craig S, Salto-Tellez M, McQuaid S, Lewis C, James J. RNAscope . Oncotarget. 2017 Oct 16;8(55):93392-93403. doi: 10.18632/oncotarget.21851. eCollection 2017 Nov 07. PMID: 29212158; PMCID: PMC5706804.
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A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.

Human molecular genetics

Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B, Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC.
PMID: 28031288
Hum Mol Genet. 2016 Dec 01;25(23):5286. doi: 10.1093/hmg/ddw390.

No abstract available.

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Bashamboo A, Donohoue PA, Vilain E, et al. A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Hum Mol Genet. 2016;25(23):5286doi: 10.1093/hmg/ddw390.
Bashamboo, A., Donohoue, P. A., Vilain, E., Rojo, S., Calvel, P., Seneviratne, S. N., Buonocore, F., Barseghyan, H., Bingham, N., Rosenfeld, J. A., Mulukutla, S. N., Jain, M., Burrage, L., Dhar, S., Balasubramanyam, A., Lee, B., Dumargne, M. C., Eozenou, C., Suntharalingham, J. P., de Silva, K., Lin, L., Bignon-Topalovic, J., Poulat, F., Lagos, C. F., McElreavey, K., & Achermann, J. C. (2016). A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Human molecular genetics, 25(23), 5286. https://doi.org/10.1093/hmg/ddw390
Bashamboo, Anu, et al. "A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development." Human molecular genetics vol. 25,23 (2016): 5286. doi: https://doi.org/10.1093/hmg/ddw390
Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B, Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC. A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Hum Mol Genet. 2016 Dec 01;25(23):5286. doi: 10.1093/hmg/ddw390. PMID: 28031288; PMCID: PMC5886042.
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A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Mazen I, McElreavey K, Eid MM, Bashamboo A, Kamah G.
PMID: 30032139
Sex Dev. 2018 Jul 21; doi: 10.1159/000491407. Epub 2018 Jul 21.

Fanconi anemia (FA) is a pleiotropic condition with 2 characteristic phenotypic markers of hematological and cytogenetic changes. The phenotype of patients with FA is very heterogeneous, associated with an array of congenital malformations affecting the skeletal, renal, genital, and/or...

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Mazen I, McElreavey K, Eid MM, et al. A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis. Sex Dev. 2018;doi: 10.1159/000491407.
Mazen, I., McElreavey, K., Eid, M. M., Bashamboo, A., & Kamah, G. (2018). A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis. Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation, . https://doi.org/10.1159/000491407
Mazen, Inas, et al. "A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis." Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation vol. (2018). doi: https://doi.org/10.1159/000491407
Mazen I, McElreavey K, Eid MM, Bashamboo A, Kamah G. A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis. Sex Dev. 2018 Jul 21; doi: 10.1159/000491407. Epub 2018 Jul 21. PMID: 30032139.
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