Meretojan taudista uutta tietoa kansallisen potilasrekisterin avulla [PDF]
, 2016 Tiedot Meretojan taudin eli suomalaisen perinnöllisen gelsoliiniamyloidoosin taudinkulusta ovat tähän saakka perustuneet suhteellisen pieniin potilassarjoihin.
Atula, Sari +3 more
core
Expanded carrier screening: A current perspective [PDF]
, 2018 Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb +12 more
core +1 more source
Autosomal recessive cutis laxa type Ib—Successful redo aortic root and arch replacement
Clinical Case Reports, 2022 We present an adolescent girl with a highly stenotic ascending aortic conduit of her former during infancy corrected giant aneurysm. Genetic testing determined autosomal recessive cutis laxa type‐Ib as the underlying connective tissue disorder.
Christiane Pees +5 more
doaj +1 more source
Giant Bladder Diverticulum in A Female Infant Mimicking Intraperitoneal Mass
Clinical Case Reports, Volume 13, Issue 6, June 2025.ABSTRACT Urinary bladder diverticula can be either primary (congenital) or secondary (acquired) and are more commonly observed in males, sometimes in association with syndromes. The condition presents with a wide range of symptoms, while some cases may remain asymptomatic.
Jay Lodhia +4 more
wiley +1 more source
A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia. [PDF]
, 2015 Inguinal hernia repair is one of the most commonly performed operations in the world, yet little is known about the genetic mechanisms that predispose individuals to develop inguinal hernias.
Ahituv, Nadav +8 more
core +2 more sources
Autosomal Recessive Cutis Laxa 1C Mutations Disrupt the Structure and Interactions of Latent TGFβ Binding Protein-4 [PDF]
, 2021 Yasmene F. Alanazi +5 more
openalex +1 more source
گزارش 1 مورد Cutis Laxa همراه با دررفتگی دو طرفه مفصل ران [PDF]
, 2002 کوتيس لاکسا يک بيماری ارثی است که از 2 طريق اتوزومال غالب و مغلوب منتقل میشود. شکل اکتسابی اين بيماری به دنبال يک بيماری تبدار يا التهاب پوستی ايجاد میشود.
عبدی, علی اکبر
core
Sweet-Syndrom des Kindesalters mit erworbener Cutis laxa (Marshall-Syndrom) als Erstmanifestation einer Takayasu-Arteriitis [PDF]
, 2022 Christiane Michl +2 more
openalex +1 more source
Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan
JIMD Reports, Volume 66, Issue 3, May 2025.ABSTRACT Congenital disorders of glycosylation (CDG) are a heterogeneous group of diseases caused by defects in various steps of the glycosylation pathway. There are over 200 known human glycosylation‐related disorders. Many of these defects lead to multisystemic manifestations, commonly involving the central nervous system, with symptoms ranging from ...
Nobuhiko Okamoto +2 more
wiley +1 more source
Targeted disruption of fibulin-4 abolishes elastogenesis and causes perinatal lethality in mice [PDF]
, 2006 Elastic fibers provide tissues with elasticity which is critical to the function of arteries, lungs, skin, and other dynamic organs. Loss of elasticity is a major contributing factor in aging and diseases.
Broekelmann, Thomas J +10 more
core +3 more sources