Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next studyResearch in context

Authors: Chrysanthi Kouri, Idoia Martinez de Lapiscina, Rawda Naamneh-Elzenaty, Grit Sommer, Kay-Sara Sauter, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, S. Faisal Ahmed, Leyla Akin, Maricruz Almaraz, Laura Audí, Murat Aydin, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, Maria Caimari, Núria Camats-Tarruella, Ariadna Campos-Martorell, Luis Castaño, Anna Casteràs, Semra Çetinkaya, Hedi L. Claahsen - van der Grinten, Martine Cools, Ines Costa, Fatma Feyza Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri-Scallet, Courtney A. Finlayson, Emilio Garcia, Beatriz Garcia- Cuartero, Alina German, Evgenia Globa, Gil Guerra-Junior, Julio Guerrero, Tulay Guran, Sabine E. Hannema, Olaf Hiort, Josephine Hirsch, Ieuan Hughes, Marco Janner, Uchenna Kennedy, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar L’Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, Veronica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenstrom, Burçe Orman, Sukran Poyrazoglu, Jose M. Rial, Meilan M. Rutter, Amaia Rodríguez, Tara Schafer-Kalkhoff, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, LIoyd J.W. Tack, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, Nataliya Zelinska

Source: EBioMedicine, Vol 113, Iss , Pp 105624- (2025)

Subject Terms: Differences of sex development (DSD), Steroidogenic factor 1 (SF-1/NR5A1), 46,XY DSD, Oligogenicity, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396425000684; https://doaj.org/toc/2352-3964

Access URL: https://doaj.org/article/70dadd4b4fe745a893eb824ff8477932

Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex developmentResearch in context

Authors: Chrysanthi Kouri, Grit Sommer, Idoia Martinez de Lapiscina, Rawda Naamneh Elzenaty, Lloyd J.W. Tack, Martine Cools, S. Faisal Ahmed, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, Leyla Akin, Maricruz Almaraz, Laura Audí, Murat Aydin, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, Maria Caimari, Núria Camats-Tarruella, Ariadna Campos-Martorell, Luis Castaño, Anna Casteràs, Semra Çetinkaya, Yee-Ming Chan, Hedi L. Claahsen-van der Grinten, Ines Costa, Fatma Feyza Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri-Scallet, Courtney A. Finlayson, Emilio Garcia, Beatriz Garcia Cuartero, Alina German, Evgenia Globa, Gil Guerra-Junior, Julio Guerrero, Tulay Guran, Sabine E. Hannema, Olaf Hiort, Josephine Hirsch, Leuan Hughes, Marco Janner, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar l'Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, Kenneth MсElreavey, Veronica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenstrom, Burçe Orman, Sukran Poyrazoglu, Jose M. Rial, Meilan M. Rutter, Amaia Rodríguez, Tara Schafer-Kalkhoff, Kay-Sara Sauter, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, Nataliya Zelinska

Source: EBioMedicine, Vol 99, Iss , Pp 104941- (2024)

Subject Terms: Steroidogenic factor 1 (SF-1/NR5A1), Differences of sex development (DSD), Broad phenotype, Genetics of sex determination and differentiation, Intersex, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396423005078; https://doaj.org/toc/2352-3964

Access URL: https://doaj.org/article/85fc4633ac7a47e48fff5e498c208fd3

Progressive osseous heteroplasia: A case report with an unexpected trigger

Authors: Alessandra Boncompagni, Angela K. Lucas-Herald, Paula Beattie, Helen McDevitt, Lorenzo Iughetti, Panayiotis Constantinou, Esther Kinning, S. Faisal Ahmed, Avril Mason

Source: Bone Reports, Vol 18, Iss , Pp 101665- (2023)

Subject Terms: Ossification, Calcium, GNAS, Inflammation, Extravasation, Rare, Diseases of the musculoskeletal system, RC925-935

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S235218722300013X; https://doaj.org/toc/2352-1872

Access URL: https://doaj.org/article/80bc40cd9b3e4c85a44b82adc2314b8f

Patient-reported experience of clinical care of osteogenesis imperfecta (OI) during the COVID-19 pandemic

Authors: Debra Smyth, Monica Hytiris, Coreen Kelday, Ciara McDonnell, Christine Burren, Adrian Gardner, Lisa Mills, Susan Parekh, Oliver Semler, Angela Stewart, Ingunn Westerheim, Muhammad Kassim Javaid, Patricia Osborne, S. Faisal Ahmed

Source: Frontiers in Public Health, Vol 10 (2023)

Subject Terms: COVID-19, osteogenesis imperfecta (OI), pandemic, rare conditions, rare diseases, remote consultation, Public aspects of medicine, RA1-1270

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpubh.2022.951569/full; https://doaj.org/toc/2296-2565

Access URL: https://doaj.org/article/5e25f3659191436a8bde0da47058f050

The effect of COVID-19 on the presentation of thyroid disease in children

Authors: Rebecca McCowan, Edith Wild, Angela K. Lucas-Herald, Jane McNeilly, Avril Mason, Sze Choong Wong, S. Faisal Ahmed, M. Guftar Shaikh

Source: Frontiers in Endocrinology, Vol 13 (2022)

Subject Terms: coronavirus, virus, thyrotoxicosis, hypothyroidism, antibodies, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2022.1014533/full; https://doaj.org/toc/1664-2392

Access URL: https://doaj.org/article/93a55c629c7c4f1dba3fedb91f597290

Experience of health care at a reference centre as reported by patients and parents of children with rare conditions

Authors: Monica Hytiris, Daisy Johnston, Shannon Mullen, Arlene Smyth, Elizabeth Dougan, Martina Rodie, S. Faisal Ahmed

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)

Subject Terms: Benchmarks, Paediatrics, Patient experience, Rare disease, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/a6ff9c8c94fc48ada5abe5d1d3bce4d6

Treatment Adherence to Injectable Treatments in Pediatric Growth Hormone Deficiency Compared With Injectable Treatments in Other Chronic Pediatric Conditions: A Systematic Literature Review

Authors: Roy Gomez, S. Faisal Ahmed, Mohamad Maghnie, Dejun Li, Toshiaki Tanaka, Bradley S. Miller

Source: Frontiers in Endocrinology, Vol 13 (2022)

Subject Terms: adherence, injection, growth hormone, growth hormone deficiency, pediatric, systematic literature review, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2022.795224/full; https://doaj.org/toc/1664-2392

Access URL: https://doaj.org/article/0fde26a789364c2a826e8261604c9c5d

Establishing the first pan-European Registry for rare bone and mineral disorders: EuRR-Bone

Authors: Corinna Grasemann, Marina Mordenti, Inês Alves, Rebecca Skarberg, Ondrej Soucek, Marco Roos, M. Kassim Javaid, S. Faisal Ahmed, Agnès Lignart, Klaus Mohnike, Wolfgang Högler, Luca Sangiorgi, Natasha M. Appelman-Dijkstra

Source: Bone Reports, Vol 13, Iss , Pp 100318- (2020)

Subject Terms: Diseases of the musculoskeletal system, RC925-935

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352187220300784; https://doaj.org/toc/2352-1872

Access URL: https://doaj.org/article/36c9f7bd840e43a4a58fd81a5b65da0f

Current models of care for disorders of sex development – results from an International survey of specialist centres

Authors: Andreas Kyriakou, Arianne Dessens, Jillian Bryce, Violeta Iotova, Anders Juul, Maciej Krawczynski, Agneta Nordenskjöld, Marta Rozas, Caroline Sanders, Olaf Hiort, S. Faisal Ahmed

Source: Orphanet Journal of Rare Diseases, Vol 11, Iss 1, Pp 1-10 (2016)

Subject Terms: Disorders of sex development, Rare diseases, Multidisciplinary team, Clinical networks, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-016-0534-8; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/d9ce54048d474bb096c5014a3032b14b

Suppressor of cytokine signaling 2 (Socs2) deletion protects bone health of mice with DSS-induced inflammatory bowel disease

Authors: Ross Dobie, Vicky E. MacRae, Chloe Pass, Elspeth M. Milne, S. Faisal Ahmed, Colin Farquharson

Source: Disease Models & Mechanisms, Vol 11, Iss 1 (2018)

Subject Terms: SOCS2, Inflammatory bowel disease, IBD, Growth hormone, Bone, Medicine, Pathology, RB1-214

File Description: electronic resource

Relation: http://dmm.biologists.org/content/11/1/dmm028456; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

Access URL: https://doaj.org/article/1fc18fddd0d3483e9b46d23e4866c5f0

Deficiency of the bone mineralization inhibitor NPP1 protects mice against obesity and diabetes

Authors: Carmen Huesa, Dongxing Zhu, James D. Glover, Mathieu Ferron, Gerard Karsenty, Elspeth M. Milne, José Luis Millan, S. Faisal Ahmed, Colin Farquharson, Nicholas M. Morton, Vicky E. MacRae

Source: Disease Models & Mechanisms, Vol 7, Iss 12, Pp 1341-1350 (2014)

Subject Terms: NPP1, Mineralization, Obesity, Diabetes, Medicine, Pathology, RB1-214

File Description: electronic resource

Relation: http://dmm.biologists.org/content/7/12/1341; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

Access URL: https://doaj.org/article/821736aae2c841c993ce6616c0e748df

Investment supervision in stock market

Authors: , Umm-e-Laila, Bukhari, S. Faisal Ahmed, Raees, Abdul, , Umm-e-Farwa

Source: 2010 International Conference on Computer Applications and Industrial Electronics Computer Applications and Industrial Electronics (ICCAIE), 2010 International Conference on. :294-296 Dec, 2010

Relation: 2010 International Conference on Computer Applications and Industrial Electronics (ICCAIE)

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Development and validation of a short version of the quality of life-DSD questionnaire for parents of young children with conditions affecting sex development

Authors: Salma R Ali, Melissa Gardner, Yiqiao Xin, Stuart O’Toole, Martyn Flett, Boma Lee, Mairi Steven, David E Sandberg, S Faisal Ahmed

Source: Endocrine Connections, Vol 13, Iss 11, Pp 1-12 (2024)

Subject Terms: health-related quality of life, parent/patient-reported outcome, psychosocial screening, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://ec.bioscientifica.com/view/journals/ec/13/11/EC-24-0300.xml; https://doaj.org/toc/2049-3614

Access URL: https://doaj.org/article/5e54ea08f9de4e0ab457ad29bf5bfef5

Prevalence and management of hypertension in Turner syndrome: data from the International Turner Syndrome (I-TS) registry

Authors: Shani A D Mathara Diddhenipothage, Katharina J Beck, Gayana Amiyangoda, Jillian Bryce, Luminita Cima, Katya De Groote, Yana Deyanova, Evgenia Globa, Gloria Herrmann, Anders Juul, Anna Sophie L Kjaer, Anette Tønnes Pedersen, Sukran Poyrazoglu, Ursina Probst-Scheidegger, Theo C J Sas, Simona Fica, Sumudu Nimali Seneviratne, Justyna Karolina Witczak, Elizabeth Orchard, Jeremy W Tomlinson, S Faisal Ahmed, Helen E Turner

Source: Endocrine Connections, Vol 14, Iss 2 (2025)

Subject Terms: turner syndrome, international turner syndrome registry, hypertension, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://ec.bioscientifica.com/view/journals/ec/14/2/EC-24-0477.xml; https://doaj.org/toc/2049-3614

Access URL: https://doaj.org/article/7d24e9e963d241bdafdde388e35f0280

Salivary androgens in adolescence and their value as a marker of puberty: results from the SCAMP cohort

Authors: Supitcha Patjamontri, Alexander Spiers, Rachel B Smith, Chen Shen, Jo Adaway, Brian G Keevil, Mireille B Toledano, S Faisal Ahmed

Source: Endocrine Connections, Vol 12, Iss 12, Pp 1-14 (2023)

Subject Terms: androstenedione, liquid chromatographymass spectrometry (lc-msms), pubertal development scale (pds), saliva, testosterone, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://ec.bioscientifica.com/view/journals/ec/12/12/EC-23-0084.xml; https://doaj.org/toc/2049-3614

Access URL: https://doaj.org/article/67168f56f61e43748acada80ebcf7400

Outcome of COVID-19 infections in patients with adrenal insufficiency and excess

Authors: Hanna F Nowotny, Jillian Bryce, Salma R Ali, Roberta Giordano, Federico Baronio, Irina Chifu, Lea Tschaidse, Martine Cools, Erica LT van den Akker, Henrik Falhammar, Natasha M Appelman-Dijkstra, Luca Persani, Guglielmo Beccuti, Ian L Ross, Simona Grozinsky-Glasberg, Alberto M Pereira, Eystein S Husebye, Stefanie Hahner, S Faisal Ahmed, Nicole Reisch

Source: Endocrine Connections, Vol 12, Iss 4, Pp 1-9 (2023)

Subject Terms: adrenal insufficiency, cushing’s syndrome, glucocorticoids, sars-cov-2, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://ec.bioscientifica.com/view/journals/ec/12/4/EC-22-0416.xml; https://doaj.org/toc/2049-3614

Access URL: https://doaj.org/article/c44643f6264f41f2a57e32d1cded770a

Predictors of surgical complications in boys with hypospadias: data from an international registry

Authors: Tim Cheetham, Sukran Poyrazoglu, Justin H Davies, S Faisal Ahmed, Jillian Bryce, Anna Nordenström, Angela K Lucas-Herald, Paul-Martin Holterhus, Marcio Lopes Miranda, Stuart O’Toole, Eduardo Corrêa Costa, Kathryn Scougall, Federico Baronio, Rachel L Boal, Jose Roberto Castera, Sebastián Castro, Feyza Darendeliler, Mirjam Dirlewanger, Gabriella Gazdagh, Evgenia Globa, Gil Guerra-Junior, Tulay Guran, Gloria Herrmann, Ahsen Karagözlü Akgül, Renata Markosyan, Kenneth McElreavey, Gianni Russo, Valerie Schwitzgebel, Marianna Stancampiano, Michael Steigert

Source: World Journal of Pediatric Surgery, Vol 6, Iss 4 (2023)

Subject Terms: Pediatrics, RJ1-570, Surgery, RD1-811

File Description: electronic resource

Relation: https://wjps.bmj.com/content/6/4/e000599.full; https://doaj.org/toc/2516-5410

Access URL: https://doaj.org/article/b2a11fe3b8a642f185956951b5a23a49