Results 71 to 80 of about 5,571 (225)

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin [PDF]

, 2017
To identify the disease-causing gene responsible for an autosomal dominantly inherited Charcot-Marie-Tooth neuropathy subtype in a family excluded for mutations in the common Charcot-Marie-Tooth genes, we used array-based sequence capture to ...
Auer-Grumbach, Michaela, Auer-Grumbach, Piet, Budka, Herbert, El Shabrawi-Caelen, Laila, Fink-Puches, Regina, Fröhlich, Eleonore, Guelly, Christian, Haas, Anton, Janecke, Andreas R., Metze, Dieter, Papić, Lea, Pieber, Thomas R., Schabhüttl, Maria, Senderek, Jan, Trajanoski, Slave, Weger, Martin, Windpassinger, Christian   +16 more
core  

Exposure to potentially teratogenic medications before and during the first trimester of pregnancy compared to women of childbearing age: A retrospective analysis of Swiss claims data (2015–2021)

Acta Obstetricia et Gynecologica Scandinavica, Volume 104, Issue 4, Page 707-719, April 2025.
In Switzerland, most dispensed medications with teratogenic effect debated or proven were in the group of weak teratogenicity level. Reassuringly, many women discontinue treatment with potential teratogens before pregnancy. Abstract Introduction Exposure to potentially teratogenic medications during pregnancy is underinvestigated in Switzerland.
Carole A. Marxer, Sereina M. Graber, Daniel Surbek, Alice Panchaud, Christoph R. Meier, Julia Spoendlin   +5 more
wiley   +1 more source

Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Phosphatidylinositol, a glycerophospholipid with a myo‐inositol head group, can form seven different phosphoinositides (PItds) by phosphorylation at inositol carbons 3, 4 and/or 5. Over 50 kinases and phosphatases participate in PItd metabolism, creating an interconnected PItd network that allows for precise temporal and spatial regulation of ...
Francis Rossignol, Foudil Lamari, Grant A. Mitchell   +2 more
wiley   +1 more source

A case of cutis laxa

Sri Lanka Journal of Child Health, 2009
Sri Lanka Journal of Child Health, 2002; 31: 69-70 (Key words: cutis laxa) Normal 0 false false false EN-US X-NONE X-NONE MicrosoftInternetExplorer4
P M G Punchihewa, L P C Saman Kumara
openaire   +2 more sources

Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Glycerophospholipids (GPLs) are the main lipid components of cellular membranes. They are implicated in membrane structure, vesicle trafficking, neurotransmission, and cell signalling. GPL molecules are amphiphilic, organized around the three carbons of glycerol. Positions sn‐1 and sn‐2 are each esterified to a fatty acid (FA).
Foudil Lamari, Francis Rossignol, Grant A. Mitchell   +2 more
wiley   +1 more source

Incidence of hip problems in developmental central hypotonia: A scoping review

Developmental Medicine &Child Neurology, Volume 67, Issue 3, Page 307-321, March 2025.
Abstract Aim To describe what is known about hip problems in individuals with developmental central hypotonia. Method Searches were conducted in five databases to October 2023. Down syndrome was excluded from this analysis of less well‐known genetic diagnoses. At least two reviewers independently screened titles, abstracts, read full‐text articles, and
Roslyn W. Livingstone, Ginny S. Paleg, M. Wade Shrader, Freeman Miller, Elisabet Rodby‐Bousquet   +4 more
wiley   +1 more source

Cútis laxa: relato de caso Cutis laxa: case report

Anais Brasileiros de Dermatologia, 2010
A Cútis laxa é uma doença rara, hereditária ou adquirida. Resulta da alteração do tecido elástico, tornando a pele frouxa e inelástica. A forma congênita tem geralmente acometimento sistêmico, com pior prognóstico.
Gisele Moro do Nascimento, Caroline Sampaio Alves Nunes, Paula Fatuch Menegotto, Salmo Raskin, Nádia de Almeida   +4 more
doaj   +1 more source

Multiple arterial anomalies in the newborn infant. Echocardiographic and angiographic diagnosis [PDF]

, 2000
Multiple arterial anomalies characterized by tortuosity and rolling of the pulmonary arteries and aorta were diagnosed on echocardiography in an asymptomatic newborn infant with a phenotype suggesting Ehlers-Danlos syndrome.
Andrade, José Lazaro de, Carvalho, Antonio Carlos, Gomes, Lourdes, Moisés, Valdir Ambrósio, Rivera, Ivan Romero, Silva, Celia Camelo   +5 more
core   +5 more sources

Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Among genetic disorders of vesicular trafficking, there are three causing recurrent acute liver failure (RALF): NBAS, RINT1, and SCYL1‐associated disease. These three disorders are characterized by liver crises triggered by febrile infections and account for a relevant proportion of RALF causes. While the frequency and severity of liver crises
Bianca Peters, Tal Dattner, Lea D. Schlieben, Tian Sun, Christian Staufner, Dominic Lenz   +5 more
wiley   +1 more source

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, Kiuru-Enari, Sari, Nikoskinen, Tuuli, Schmidt, Eeva-Kaisa   +3 more
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