Results 71 to 80 of about 1,472 (192)
Oxidant/Antioxidant Profile in the Thoracic Aneurysm of Patients with the Loeys‐Dietz Syndrome
Oxidative Medicine and Cellular Longevity, Volume 2020, Issue 1, 2020., 2020 Patients with the Loeys‐Dietz syndrome (LDS) have mutations in the TGF‐βR1, TGF‐βR2, and SMAD3 genes. However, little is known about the redox homeostasis in the thoracic aortic aneurysms (TAA) they develop. Here, we evaluate the oxidant/antioxidant profile in the TAA tissue from LDS patients and compare it with that in nondamaged aortic tissue from ...
Maria Elena Soto +10 more
wiley +1 more source
22q11.2 deletion syndrome [PDF]
, 2015 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in
Bassett, Anne S. +11 more
core +1 more source
, 2016 El síndrome de Beals es una enfermedad hereditaria del tejido conectivo. Tiene un carácter autosómico dominante. Fenotípicamente, es parecido al síndrome de Marfan, pero menos grave.
Del Pozo Copaja, Edwin +1 more
core +2 more sources
Congenital Contractural Arachnodactyly (Beals-Hecht Syndrome): A Case Report
Haseki Tıp Bülteni, 2011 Ali Karaman, Hasan Kahveci
doaj +1 more source
, 1977 Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/46771/1/256_2004_Article_BF00347143 ...
A.B. Marfan +8 more
core +1 more source
Advancing Our Understanding of the Inheritance and Transmission of Pectus Excavatum [PDF]
, 2012 Pectus excavatum is the most common congenital chest wall abnormality expressed in children, yet its inheritance is poorly understood. Here we present the first comprehensive assessment of the inheritance of this disorder.
Horth, Lisa +6 more
core +2 more sources
American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson +10 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 12, Issue 7, July 2024.The study aimed to expand the understanding of Marfan syndrome (MFS) and its genetic basis. It identified 181 mutations in Marfan‐related genes, including 94 novel mutations. This study broadens the mutation spectrum of FBN1 and highlights the significance of other Marfan‐related genes in MFS patients with ocular symptoms.
Dongming Han +8 more
wiley +1 more source
Клінічний випадок синдрому Марфана з тяжким ураженням аорти [PDF]
, 2011 В статье представлен клинический случай синдрома Марфана с тяжелым поражением сердечно-сосудистой системы и опорно$двигательного аппарата, осложненный расслаивающей аневризмой аорты и симптоматической артериальной гипертензией.
Каменська, Е.П. +5 more
core
Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome [PDF]
, 2010 Van den Ende-Gupta syndrome (VDEGS) is a congenital condition characterized by craniofacial and skeletal manifestations, specifically blepharophimosis, malar and maxillary hypoplasia, distinctive nose, arachnocamptodactyly, and long slender bones of the ...
Bedeschi, Maria Francesca +7 more
core +2 more sources