Results 201 to 210 of about 542,680 (355)

Society for Endocrinology Clinical Practice Guideline for the Evaluation of Androgen Excess in Women

Clinical Endocrinology, EarlyView.
ABSTRACT Context Androgen excess is common in women and refers to clinical or biochemical evidence of elevated androgenic steroids such as testosterone. It is associated with underlying polycystic ovary syndrome in the majority of cases. However severe androgen excess is less common and may indicate the presence of underlying adrenal or ovarian ...
Yasir S. Elhassan, James M. Hawley, Leanne Cussen, Ali Abbara, Sophie A. Clarke, Punith Kempegowda, Rima K. Dhillon‐Smith, Puja Thadani, Maureen Busby, Lucy Owusu‐Darkwah, Rachel Marrington, W. Colin Duncan, Robert K. Semple, Richard Quinton, Michael W. O'Reilly   +14 more
wiley   +1 more source

CRISPR/Cas9-mediated generation of a homozygous CRB2 knockout H1 human embryonic stem cell line

Stem Cell Research
Mutations in the Crumbs homolog 2 (CRB2) gene cause various autosomal recessive genetic diseases, such as leber congenital amaurosis, retinitis pigmentosa and ventriculomegaly with cystic kidney disease.
Lei Zhang, Fengfeng Zhang, Mingze Yao
doaj  

Celebrating the Past, Present, and Future of NIDDK-Supported Research Centers Focused on Diabetes, Endocrinology, and Metabolic Diseases. [PDF]

Diabetes
Silva CM, Thornton PL, Artis Dickerson S, Eggerman TL, Laughlin MR, Wallace JA, Hanlon-Tilghman MC, Cefalu WT.   +7 more
europepmc   +1 more source

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

Clinical Genetics, EarlyView.
This study reports six new cases of 22q13.2 duplication and triplication, including the TCF20 gene, associated with neurodevelopmental disorders and various morphological and systemic abnormalities. The findings suggest a variable expressivity, but their complete penetrance remains uncertain compared to well‐established loss‐of‐function variants ...
Etienne Bizot, Dima Jouni, Caroline Rooryck, Juliet Taylor, Marine Legendre, Lorelei Charbonnier, Julia Metreau, Emmanuelle Benaloun, Audrey Pinson, Geneviève Quenum, Jérôme Bouligand, Gérard Tachdjian, Philippe Labrune, Lucie Tosca   +13 more
wiley   +1 more source

Review of research on pulmonary cysts in sjögren's syndrome. [PDF]

J Cardiothorac Surg
Pan CH, Zhang XF, Chen C, An XB.
europepmc   +1 more source

Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study

Clinical Genetics, EarlyView.
In a multicenter study of 692 patients with kidney disease, a 44‐gene panel achieved a 36% diagnostic yield. The 36% yield was not significantly lower than with larger panels or whole‐exome sequencing. A post hoc machine‐learning model identified key predictors to stratify patients into four risk bins (11%–74% yield), enabling more cost‐effective ...
Silvia Giovanella, Antonio Miguel Poyatos‐Andújar, Maria Mar Aguila Garcia, Almudena Avila‐Fernandez, Ana Bustamante‐Aragonés, Carmen Ayuso, Antonio Percesepe, Davide Martorana, Maria Ferri, Alessandra Terracciano, Laura Massella, Johanna Chester, Francesca Testa, Giulia Ligabue, Marco Ferrarini, Dino Gibertoni, Gaetano Alfano, Elena Tenedini, Lucia Artuso, Marco Marino, Olga Calabrese, Enrico Tagliafico, Riccardo Magistroni   +22 more
wiley   +1 more source

Imaging Diagnosis-Sonographic Features of Bilateral Renal Lymphangiectasia in an Azotemic Dog. [PDF]

Vet Radiol Ultrasound
Wang Y, Mai W, Dourmashkin L, Leopardi V, Amerman H.   +4 more
europepmc   +1 more source

High‐resolution ultrasonography in the differential diagnosis of cystic diseases of the kidney in infancy and childhood: preliminary experience

Journal of ultrasound in medicine, 1997
Manish Jain, G. Lequesne, Anthony J. Bourne, Paul Henning   +3 more
semanticscholar   +1 more source

IMPROVE 2023: The 2nd International Meeting on Pathway‐Related Obesity: Vision & Evidence

Clinical Obesity, EarlyView.
ABSTRACT A total of 150 clinicians and researchers representing 19 countries came together in person and online to participate in the highly anticipated 2nd International Meeting on Pathway‐Related Obesity: Vision & Evidence (IMPROVE), held on 13–15 December 2023 in Paris, France.
Karine Clément, Erica L. T. van den Akker, Jesús Argente, Phil Beales, Metin Cetiner, Béatrice Dubern, Sadaf Farooqi, Aurélie Gouronc, Peter Kühnen, Johanne Le Beyec, Louis Lebreton, David Meeker, Hermann L. Müller, Jean Muller, Christine Poitou, Patrick Sleiman, Christian Vaisse, Martin Wabitsch, Jacques Young, Hélène Dollfus   +19 more
wiley   +1 more source

Autosomal Dominant Polycystic Kidney Disease: From Pathogenesis to Organoid Disease Models. [PDF]

Biomedicines
Scarlat A, Tomasoni S, Trionfini P.
europepmc   +1 more source