Results 71 to 80 of about 41,808 (221)

Pathways to enhancing prenatal diagnosis of skeletal dysplasias

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang, Christina Jacobsen, Jennifer Arnold, Ronald J. Wapner, Deborah Krakow   +4 more
wiley   +1 more source

Fanconi–Bickel syndrome in a Ugandan child – diagnostic challenges in resource-limited settings: a case report

Journal of Medical Case Reports, 2020
Background Fanconi–Bickel syndrome is an autosomal recessive disorder of glucose metabolism. It is an extremely rare disorder. Most cases have been reported in consanguineous communities.
Thereza Piloya, Hawa Ssematala, Lydia Paparu Dramani, Oliva Nalikka, Miriam Baluka, Victor Musiime   +5 more
doaj   +1 more source

Fanconi or not Fanconi? Lowe Syndrome Revisited [PDF]

Clinical Journal of the American Society of Nephrology, 2008
Renal Fanconi syndromes are both clinically challenging and physiologically fascinating. The diagnosis requires a certain index of suspicion to correctly identify the clinical symptomatology and pursue the appropriate laboratory evaluations. With regard to the pathophysiology, the renal proximal tubule is the site of action.
openaire   +2 more sources

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, Volume 115, Issue 5, Page 1015-1024, May 2026.
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source

Lowe syndrome: report of five cases [PDF]

, 2010
INTRODUCTION: Lowe Syndrome, or Oculocerebrorenal Dystrophy (OCRL), has a recessive inheritance linked to X chromosome. It presents cataracts and glaucoma, delay in neuropsychomotor development, cognitive deficits, and renal Fanconi syndrome.
Andrade, Maria Cristina de, Carvalhaes, João Tomás de Abreu, Fernandes, Fernanda Alves Thomaz, Genzani, Camila Penteado, Maia, Marta Liliane de Almeida, Val, Maria Luiza Dautro Moreira do   +5 more
core   +3 more sources

Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry

Haematologica, 2010
Background Inherited bone marrow failure syndromes are rare genetic disorders characterized by bone marrow failure, congenital anomalies, and cancer predisposition.
Hannah Tamary, Daniella Nishri, Joanne Yacobovich, Rama Zilber, Orly Dgany, Tanya Krasnov, Shraga Aviner, Polina Stepensky, Shoshana Ravel-Vilk, Menachem Bitan, Chaim Kaplinsky, Ayelet Ben Barak, Ronit Elhasid, Joseph Kapelusnik, Ariel Koren, Carina Levin, Dina Attias, Ruth Laor, Isaac Yaniv, Philip S. Rosenberg, Blanche P. Alter   +20 more
doaj   +1 more source

Early‐Onset Digestive System Cancers: Risk Factors and Clinicopathological and Molecular Features Across Organ Sites

Cancer Science, Volume 117, Issue 5, Page 1223-1234, May 2026.
Shared risk factors, clinical features, and tumor characteristics across multiple early‐onset cancer types are shown in this Graphical Abstract. Integrative approaches combining molecular pathology, oncology, and population sciences offer opportunities to clarify underlying mechanisms and help us develop preventive strategies for early‐onset cancers ...
Nobuhiro Nakazawa, Satoko Ugai, Atsushi Kondo, Kosuke Matsuda, Shu Kato, Genki Usui, Shiori Tanaka, Hwa‐Young Lee, Xinyuan Zhang, Hideo Miyagawa, Mai Chan Lau, Hiroshi Saeki, Yukihide Kanemitsu, Andrew T. Chan, Shuji Ogino, Minkyo Song, Juha P. Väyrynen, Tomotaka Ugai   +17 more
wiley   +1 more source

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases [PDF]

, 2008
We define phosphovariants as genetic variations that change phosphorylation sites or their interacting kinases. Considering the essential role of phosphorylation in protein functions, it is highly likely that phosphovariants change protein functions and ...
Gil-Mi Ryu, Jong Hun Kim, Kyu-Won Kim, Kyung-Soo Oh, Pamela Song   +4 more
core   +1 more source

Patients with anorectal malformation and upper limb anomalies:genetic evaluation is warranted [PDF]

, 2015
The objective of this study was to compare the prevalence of genetic disorders in anorectal malformation (ARM) patients with upper limb anomalies to that in ARM patients with other associated anomalies. A retrospective case study was performed in two
Bever, Y. (Yolande) van, Blaauw, I. (Ivo) de, Hondel, D. (Desiree) van den, IJsselstijn, H. (Hanneke), Klein, J.E.M.M. (Annelies) de, Marcelis, C.L.M. (Carlo), Sloots, C.E.J. (Pim), Wijers, C.H.W. (Charlotte)   +7 more
core   +1 more source

Osteomalacia, renal Fanconi syndrome, and bone tumor

Journal of International Medical Research, 2018
We herein report two cases of Fanconi syndrome with refractory hypophosphatemic osteomalacia that was difficult to correct by phosphorus replacement therapy.
Manting Gou, Zhongshu Ma
doaj   +1 more source