Results 71 to 80 of about 14,149 (242)

Análisis genómico global en los Síndromes de Sobrecrecimiento: evaluación de la dosis genómica mediante el uso de microarrays personalizados y estudio de genes candidatos mediante el uso de secuenciación masiva de nueva generación [PDF]

, 2017
Tesis doctoral inédita leída en la Universidad Autónoma de Madrid, Facultad de Medicina, Departamento de Bioquímica.
Tenorio Castaño, Jair Antonio
core   +1 more source

NLRP2 controls age-associated maternal fertility [PDF]

, 2016
Nucleotide-binding domain and leucine-rich repeat (NLR) proteins are well-known for their key roles in the immune system. Ectopically expressed NLRP2 in immortalized cell lines assembles an inflammasome and inhibits activation of the proinflammatory ...
Agostini, Anna A. Kuchmiy, Barton, Bruey, Court, Fontalba, Geddes, Jinke D’Hont, Kanneganti, Kinoshita, Kuida, Lamkanfi, Lamkanfi, Lupfer, Ma, Meyer, Mohamed Lamkanfi, Nguyen, Peng, Peng, Ting, Tino Hochepied, Tong, Van Gorp, Vande Walle   +24 more
core   +2 more sources

Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome

Epigenetics, 2019
The use of assisted reproductive technologies (ART) can induce a congenital overgrowth condition in humans and ruminants, namely Beckwith-Wiedemann syndrome (BWS) and large offspring syndrome (LOS), respectively.
Yahan Li, D. Hagen, Tieming Ji, M. Bakhtiarizadeh, Whitney M Frederic, Emily M Traxler, J. Kalish, R. M. Rivera   +7 more
semanticscholar   +1 more source

Experiences of Dutch parents undergoing prenatal genomic testing for fetal structural anomalies: A prospective qualitative analysis

Journal of Genetic Counseling, Volume 35, Issue 2, April 2026.
Abstract Prenatal Exome Sequencing (pES) increases the diagnostic rate for genetic disorders in pregnancies with structural abnormalities and substantially impacts parental decision‐making regarding pregnancy continuation or termination. Previous qualitative research on parental experiences of pES has typically been performed several months after ...
Maayke A. de Koning, Sarah Long, Holly E. Evans, Lauren Kelada, Gijs W. E. Santen, Tony Roscioli, Manon Suerink   +6 more
wiley   +1 more source

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care. [PDF]

, 2015
Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of ...
Eggermann, Thomas, Grønskov, Karin, Linglart, Agnès, Mackay, Deborah, Maher, Eamonn R, Monk, David, Netchine, Irène, Riccio, Andrea, Temple, I Karen, Tümer, Zeynep   +9 more
core   +5 more sources

Behavioural abnormalities in a novel mouse model for Silver Russell Syndrome [PDF]

, 2016
Silver Russell Syndrome (SRS) syndrome is an imprinting disorder involving low birth weight with complex genetics and diagnostics. Some rare SRS patients carry maternally inherited microduplications spanning the imprinted genes CDKN1C, PHLDA2, SLC22A18 ...
Davis, Brittany Ann, Dwyer, Dominic Michael, Isles, Anthony Roger, John, Rosalind M., McNamara, Grainne Iseult   +4 more
core   +1 more source

Survival for Children Diagnosed With Wilms Tumour (2012–2022) Registered in the UK and Ireland Improving Population Outcomes for Renal Tumours of Childhood (IMPORT) Study

Pediatric Blood &Cancer, Volume 73, Issue 3, March 2026.
ABSTRACT Background The Improving Population Outcomes for Renal Tumours of childhood (IMPORT) is a prospective clinical observational study capturing detailed demographic and outcome data on children and young people diagnosed with renal tumours in the United Kingdom and the Republic of Ireland.
Naomi Ssenyonga, Angela Lopez‐Cortes, Reem Al‐Saadi, Suzanne Tugnait, Kristina Dzhuma, Catriona Duncan, Gordan Vujanic, Tanzina Chowdhury, Claudia Allemani, Michel P. Coleman, Kathy Pritchard‐Jones, the Children's Cancer and Leukaemia Group (CCLG) Renal Tumour Special Interest Group, Hugh Bishop, Anthony McCarthy, Pamela Kearns, Helen Rees, Amos Burke, Meriel Jenney, Jane Pears, Hamish Wallace, Milind Ronghe, Tanzina Chowdhury, Susan Picton, Emma Ross, Lisa Howell, Bernadette Brennan, Gail Halliday, Richard Grundy, Shaun Wilson, Sucheta Vaidya, Daniel Yeomanson, Jessica Bate, Vesna Pavasovic, Jessica Bate, Sabine Irtan, Jesper Brok, Minou Oostveen, Kristina Dzhuma, Mark Weeks, Richard Williams, Mark Powis, Max Pachl, Bruce Okoye, Naima Smeulders, Gordan Vujanic, Oystein Olsen, Tom Watson, Susan Shelmerdine, Dan Saunders, Angela Lopez-Cortes, Taryn Treger, Tom Jackson, Suzanne Tugnait, Lisa Howell, Tanzina Chowdhury, Sam Behjati, Angela Polanco   +56 more
wiley   +1 more source

The human silent information regulator (Sir)2 homologue hSIRT3 is a mitochondrial nicotinamide adenine dinucleotide-dependent deacetylase. [PDF]

, 2002
The yeast silent information regulator (Sir)2 protein links cellular metabolism and transcriptional silencing through its nicotinamide adenine dinucleotide (NAD)-dependent histone deacetylase activity.
Frye, Roy A, North, Brian J, Ott, Melanie, Schwer, Bjorn, Verdin, Eric   +4 more
core  

Rare Association Between Neurofibromatosis Type 1 and Adrenocortical Carcinoma

Clinical Case Reports, Volume 14, Issue 3, March 2026.
Axial slice CT abdomen pelvis with portal venous contrast, revealing a well circumscribed 22 × 20 × 22 mm left adrenocortical adenocarcinoma (ACC) in a patient with neurofibromatosis type 1 (NF1). ABSTRACT Although rare, adrenocortical carcinoma (ACC) should be considered in individuals with neurofibromatosis type 1 (NF1) presenting with adrenal ...
Zachary Pluim, Joseph Do Woong Choi, Benedict Kakala, Jessica Wong, Roderick Clifton‐Bligh, Mark Sywak, Julie Howle   +6 more
wiley   +1 more source

Tall stature due to Beckwith Wiedemann Syndrome

Sri Lanka Journal of Diabetes Endocrinology and Metabolism, 2018
Tall stature is less commonly referred to specialist care. Familial, nutritional and hormonal causes are mainly encountered. Beckwith Wiedemann Syndrome (BWS) is a rare congenital disease, referred as an overgrowth syndrome.
Dharshini Karuppiah, Mithusha Markandu
doaj   +1 more source