Results 61 to 70 of about 1,914,079 (159)

Silver-Russell syndrome and exclusion of uniparental disomy

, 1996
Recently maternal uniparental disomy for the entire chromosome 7 was described in three of 25 Silver-Russell syndrome sporadic cases, yet the etiology of the remaining cases is unclear.
Shaffer, L.G., Ramirez-Duenas, M.L., Ayala-Madrigal, M.L.   +2 more
core   +1 more source

Challenges in Diagnosing Central Adrenal Insufficiency in Children: Cortisol‐Stimulating Tests are Safe and Often Required

Clinical Endocrinology, Volume 105, Issue 4, Page 408-415, October 2026.
ABSTRACT Introduction The accuracy and safety of cortisol‐stimulating tests (CSTs) for assessing hypothalamic–pituitary–adrenal (HPA) axis integrity, including the diagnosis of central adrenal insufficiency (CAI), in children remain uncertain. Although these tests can simultaneously evaluate cortisol and growth hormone secretion, the present study ...
Mariana Peduti Halah, Ana Carolina Maia Teodózio, Davi Casale Aragon, Paula Conde Lamparelli Elias, Margaret de Castro, Ayrton Custodio Moreira, Sonir Rauber Antonini   +6 more
wiley   +1 more source

Pure Choriocarcinoma of the Ovary in Silver-Russell Syndrome [PDF]

, 2015
Pure ovarian choriocarcinoma is an extremely rare malignancy that can be gestational or non-gestational in origin. Silver-Russell syndrome (SRS) is a rare congenital developmental disorder characterized by pre- and postnatal growth failure, relative ...
Ogawa, Chikako, Katayama, Takaaki, Nishida, Takeshi, Nakamura, Keiichiro, Haruma, Tomoko, Kusumoto, Tomoyuki, Seki, Noriko, Hiramatsu, Yuji   +7 more
core   +1 more source

Design and Implementation of an Automated Interpretation Algorithm for Lupus Anticoagulant Functional Testing

International Journal of Laboratory Hematology, Volume 48, Issue 5, Page 1181-1188, October 2026.
ABSTRACT Introduction Lupus anticoagulant (LA) testing is essential, albeit complex, in the laboratory diagnosis of antiphospholipid syndrome (APS). Given the multi‐step workflow and the variability introduced by anticoagulant therapy, reagent differences, and interpretive approaches, result interpretation requires expert evaluation.
Chiara Novelli, Arianna Gatti, Flora Ierna, Elena Riccardi, Irene Cuppari   +4 more
wiley   +1 more source

Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report

BMC Medical Genomics, 2018
Background Silver-Russell Syndrome (SRS) is a rare growth-related genetic disorder mainly characterized by prenatal and postnatal growth failure. Although molecular causes are not clear in all cases, the most common mechanisms involved in SRS are loss of
Yerai Vado, Javier Errea-Dorronsoro, Isabel Llano-Rivas, Nerea Gorria, Arrate Pereda, Blanca Gener, Laura Garcia-Naveda, Guiomar Perez de Nanclares   +7 more
doaj   +1 more source

Towards the Development of a Conceptual Framework of the Determinants of Pre‐Eclampsia: A Hierarchical Systematic Review of Biomarkers

BJOG: An International Journal of Obstetrics &Gynaecology, Volume 133, Issue S4, Page S30-S42, September 2026.
ABSTRACT Background Pre‐eclampsia is a leading cause of maternal and perinatal morbidity and mortality. There are several determinants of individual pregnant women's risk of developing pre‐eclampsia, including biomarkers and ultrasound markers. Objective A conceptual framework to collate and summarise the extensive body of literature on biomarkers ...
Terteel Elawad, Hiten D. Mistry, Mai‐Lei Woo Kinshella, Marianne Vidler, Marie‐Laure Volvert, Helen Elwell, Veronique Filippi, Kelly Pickerill, Rachel Craik, Joel Singer, Rosemary Townsend, Hannah Blencowe, Eleni Z. Tsigas, Jeffrey N. Bone, Peter von Dadelszen, Laura A. Magee, the PRECISE Network, Umberto D’Alessandro, Anna Roca, Hawanatu Jah, Andrew Prentice, Melisa Martinez‐Alvarez, Brahima Diallo, Abdul Sesay, Sambou Suso, Baboucarr Njie, Fatima Touray, Yahaya Idris, Fatoumata Kongira, Modou F. S. Ndure, Lawrence Gibba, Abdoulie Bah, Yorro Bah, Marleen Temmerman, Angela Koech, Patricia Okiro, Geoffrey Omuse, Grace Mwashigadi, Mary Goretti Amondi, Consolata Juma, Joseph Mutunga, Moses Mukhanya, Robin Okello, Onesmus Wanje, Isaac Mwaniki, Marvin Ochieng, Emily Mwadime, Esperança Sevene, Corssino Tchavana, Salesio Macuacua, Anifa Vala, Helena Boene, Lazaro Quimice, Sonia Maculuve, Inacio Mandomando, Peter von Dadelszen, Laura A. Magee, Rachel Craik, Marie‐Laure Volvert, Hiten Mistry, Thomas Mendy, Donna Russell, Prestige Tatenda Makanga, Liberty Makacha, Reason Mlambo, Lucilla Poston, Rachel Tribe, Sophie Moore, Tatiana Salisbury, Aris Papageorghiou, Alison Noble, Rachel Craik, Hannah Blencowe, Veronique Filippi, Joy Lawn, Matt Silver, Joseph Akuze, Ursula Gazeley, Judith Cartwright, Guy Whitley, Sanjeev Krishna, Marianne Vidler, Jing Li, Jeff Bone, Mai‐Lei Woo Kinshella, Domena Tu, Ash Sandhu, Kelly Pickerill, Carla Carillho, Benjamin Barratt   +89 more
wiley   +1 more source

DENTAL MANAGEMENT OF THE RUSSELL-SILVER SYNDROME: CASE REPORT [PDF]

, 2010
Russell-Silver syndrome is a genetic disorder characterized by intrauterine and/or postnatal growth restriction and typical facies. The clinical feature is various due to heterogeneous genetic characters.
김승혜, 이제호, 손흥규, 최형준   +3 more
core  

Russell–Silver syndrome presenting as early asymmetric IUGR [PDF]

, 2008
We report a case of severe intrauterine growth restriction (IUGR) which was diagnosed as Russell–Silver syndrome (RSS) postnatally. RSS (also known as Silver–Russell syndrome) is one of more than 300 recognised forms of genetic disorder that leads to ...
Khalil, H., Edwards, H., Preston, J.
core   +1 more source

Integrating Social and Clinical Determinants of Pre‐Eclampsia: A Hierarchical Systematic Review and Conceptual Framework for Prevention

BJOG: An International Journal of Obstetrics &Gynaecology, Volume 133, Issue S4, Page S43-S53, September 2026.
ABSTRACT Background Pre‐eclampsia is a leading cause of maternal and perinatal morbidity and mortality, with risk factors reported across a vast literature base fragmented between social and clinical factors. Objective To develop a comprehensive conceptual framework of the strongest risk factors and their relationships contributing to pre‐eclampsia ...
Mai‐Lei Woo Kinshella, Jeffrey N. Bone, Terteel Elawad, Hiten D. Mistry, Laney Poye, Eleni Tsigas, Deepika Devadas, Violet Mateljan, Marie‐Laure Volvert, Marianne Vidler, Hannah Blencowe, Véronique Filippi, Laura A. Magee, Peter von Dadelszen, The PRECISE Network, Umberto D'Alessandro, Anna Roca, Hawanatu Jah, Andrew Prentice, Melisa Martinez‐Alvarez, Brahima Diallo, Abdul Sesay, Sambou Suso, Baboucarr Njie, Fatima Touray, Yahaya Idris, Fatoumata Kongira, Modou F. S. Ndure, Lawrence Gibba, Abdoulie Bah, Yorro Bah, Marleen Temmerman, Angela Koech, Patricia Okiro, Geoffrey Omuse, Grace Mwashigadi, Mary Goretti Amondi, Consolata Juma, Joseph Mutunga, Moses Mukhanya, Robin Okello, Onesmus Wanje, Isaac Mwaniki, Marvin Ochieng, Emily Mwadime, Esperança Sevene, Corssino Tchavana, Salesio Macuacua, Anifa Vala, Helena Boene, Lazaro Quimice, Sonia Maculuve, Inacio Mandomando, Peter von Dadelszen, Laura A. Magee, Rachel Craik, Marie‐Laure Volvert, Hiten Mistry, Thomas Mendy, Donna Russell, Prestige Tatenda Makanga, Liberty Makacha, Reason Mlambo, Lucilla Poston, Rachel Tribe, Sophie Moore, Tatiana Salisbury, Aris Papageorghiou, Alison Noble, Rachel Craik, Hannah Blencowe, Veronique Filippi, Joy Lawn, Matt Silver, Joseph Akuze, Ursula Gazeley, Judith Cartwright, Guy Whitley, Sanjeev Krishna, Marianne Vidler, Jing (Larry) Li, Jeff Bone, Mai‐Lei (Maggie) Woo Kinshella, Domena Tu, Ash Sandhu, Kelly Pickerill, Carla Carillho, Benjamin Barratt   +87 more
wiley   +1 more source

Methaemoglobinaemia: From pathophysiology to contemporary clinical management

British Journal of Haematology, Volume 209, Issue 3, Page 900-910, September 2026.
Summary Methaemoglobin (MetHb) is an oxidised form of haemoglobin (Hb) unable to bind oxygen. Raised levels of MetHb reduce the blood's oxygen‐carrying capacity, causing potentially severe hypoxaemia and possible death. The condition arises from three main pathologies: mutations in globin genes causing Haemoglobin‐M, inherited deficiency of the enzyme ...
Alexander J. Twine, David C. Rees
wiley   +1 more source