Results 51 to 60 of about 187,796 (197)

A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. [PDF]

, 2002
In computing the probability that a woman is a BRCA1 or BRCA2 carrier for genetic counselling purposes, it is important to allow for the fact that other breast cancer susceptibility genes may exist.
P D P Pharoah, D F Easton, Peto, J, J Peto, Stratton, MR, Day, NE, McMullan, G, Antoniou, AC, Easton, DF, N E Day, M R Stratton, A C Antoniou, Pharoah, PDP, B J Ponder, Ponder, BJ, G McMullan   +15 more
core   +1 more source

X-linked familial hypophosphatemia

Arab Journal of Rheumatology
Abstract: Osteomalacia is a diffuse bone disorder characterized by increased bone fragility, and it represents in adults the equivalent of rickets seen in children, sharing the same causes. This condition mainly results from Vitamin D deficiency, but in some cases, it may be due to renal phosphate wasting, which can be hereditary, acquired ...
Boutaina Zerouali, Kawtar Nassar, Soukaina Zaher, Ahlam Ajerouassi, Wafae Rachidi, Saadia Janani   +5 more
openaire   +1 more source

A Case of X-Linked Hypophosphatemia: Exploring the Burden in a Single Family and the Significance of a Multidisciplinary Approach

Archives of Case Reports, 2023
A 46-year-old lady was diagnosed clinically with X-linked hypophosphatemia (XLH) with a rare pathogenic variant detected using exome sequencing. Phosphate-regulating endopeptidase homologous X linked (PHEX) is normally expressed in osteoblasts and osteocytes, and senses phosphate regulation.
Amrit Kaur Kaler, Nandini Shyamali Bora, Kavyashree P, Ankita Nikam, Samrudhi Rane, Yash Tiwarekar, Shweta Limaye, Archana Juneja   +7 more
openaire   +1 more source

X-Linked Hypophosphatemia in a Family Cohort: Clinical Variability, Genetic Confirmation and Modern Therapeutic Perspectives. [PDF]

J Clin Med
Background/Objectives: X-linked hypophosphatemia (XLH) is the most common form of inherited rickets, caused by pathogenic mutations in the PHEX gene (phosphate-regulating endopeptidase homolog, X-linked). These mutations increase fibroblast growth factor 23 (FGF23) activity, resulting in renal phosphate wasting and defective bone mineralization.
Popa O, Balaș M, Golu I, Amzăr D, Dorogi C, Vlad M.   +5 more
europepmc   +4 more sources

Exploring the Content Validity of Patient‐Reported Outcome Measures to Capture the Patient Experience of Becker Muscular Dystrophy

Muscle &Nerve, Volume 74, Issue 3, Page 559-569, September 2026.
ABSTRACT Introduction/Aims The patient experience of Becker muscular dystrophy (BMD) is not well understood, making it difficult to evaluate the conceptual relevance of proposed patient‐reported outcome (PRO) measures. This study aimed to conceptualize the patient experience of BMD and evaluate content validity and perceptions of meaningful changes of ...
Abby Bronson, Katie Mellor, Nicole Kilburn, Ryan Fischer, Natalie Aldhouse, Chris Marshall, Tamara Al‐zubeidi   +6 more
wiley   +1 more source

Ethical, social and economic issues in familial breast cancer: a compilation of views from the EC biomed II demonstration project [PDF]

, 1999
: Demand for clinical services for familial breast cancer is continuing to rise across Europe. Service provision is far from uniform and, in most centres, its evolution has been determined by local conditions, specifically by local research ...
Hodgson, S, Haites, N., Stoppa-Lyonnet, D., Eccles, D, Stoppa-Lyonnet, D, Morrison, P., Eccles, D., Møller, P, Steel, M., Chang-Claude, J., Smyth, E., Moller, P., Evans, G.; id_orcid, Haites, N, Caligo, M., Steel, M, Hodgson, S., Vasen, H, Evans, G, Evans, G., Chang-Claude, J, Morrison, P, Smyth, E, Caligo, M, Vasen, H.   +24 more
core   +1 more source

Hypophosphataemia following iron infusion: a narrative review of an increasingly recognised complication

Internal Medicine Journal, Volume 56, Issue 9, Page 1500-1509, September 2026.
Abstract Parenteral iron is widely prescribed by medical practitioners, with more than 600 000 outpatient prescriptions dispensed in 2025 through the Australian Pharmaceutical Benefits Scheme. While intravenous iron has transformed the management of iron deficiency, hypophosphataemia is now recognised as a common complication, with incidences reported ...
Brenda Ta, Stephanie Baddock, Jane Ludington, Angela Sheu   +3 more
wiley   +1 more source

A Diagnostic Dilemma: Hypophosphatemic Rickets Unmasking Tyrosinemia Type 1: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT A 7.5‐year‐old Pakistani girl was misdiagnosed with hypophosphatemic rickets. Progressive skeletal deformities, hepatomegaly, and renal tubular dysfunction were detected despite standard treatment. Due to the atypical findings, genetic testing was performed and confirmed the diagnosis of Hereditary tyrosinemia Type 1.
Muhammad Wajid Siddique, Muhammad Hanzla Shahzad, Mifrah Rahat Khan, FNU Mahparah, Kanchan kumari, Muhammad Husnain Ahmad   +5 more
wiley   +1 more source

Treatment of hypophosphatemia in the intensive care unit: a review [PDF]

, 2010
Introduction: Currently no evidence-based guideline exists for the approach to hypophosphatemia in critically ill patients. Methods: We performed a narrative review of the medical literature to identify the incidence, symptoms, and treatment of ...
Kuiper, Michael A, Marcus J Schultz, Geerse, Daniël A, Schultz, Marcus J, Daniel A Geerse, Schultz, Marcus J., Schultz, M.J., Bindels, Alexander J., Geerse, D.A., Kuiper, Michael A., Bindels, A.J., Spronk, Peter E, Peter E Spronk, Roos, Arnout N, Spronk, P.E., Michael A Kuiper, Arnout N Roos, Roos, A.N., Roos, Arnout N., Spronk, Peter E., Bindels, Alexander J, Kuiper, M.A., Geerse, Daniel A., Alexander J Bindels   +23 more
core   +2 more sources

Disorders of bone and mineral metabolism in pregnancy and lactation: A case based clinical review

Osteoporosis and Sarcopenia
Bone and mineral metabolism in the human body undergoes significant adaptations during pregnancy and lactation to meet the physiological demands of both the mother and fetus.
Manju Chandran, Sarah Ying Tse Tan
doaj   +1 more source