Results 51 to 60 of about 598 (144)

Seizures as an Atypical Feature of Beal’s Syndrome

Sultan Qaboos University Medical Journal, 2016
Congenital contractural arachnodactyly, commonly known as Beal’s syndrome, is an extremely rare genetic disorder caused by mutations in the fibrillin-2 (FBN2) gene located on chromosome 5q23.
Nazreen B. K. Jaman, Abeer Al-Sayegh
doaj   +1 more source

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

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, Frank Mentch, Jonathan Billings, Kayleigh Ostberg, Michael E. March, Jennifer M. Kalish, Dong Li, India Cannon, Lisa M. Guay‐Woodford, Erum Hartung, Alanna Strong   +10 more
wiley   +1 more source

Targeted next‐generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation

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, Ziwei Wang, Xuan Chen, Zijia Liu, Zhengtao Yang, Yixi Chen, Peiyi Tian, Jiankang Li, ZhuoShi Wang   +8 more
wiley   +1 more source

ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2.

PLoS ONE, 2010
BackgroundFibrillins 1 (FBN1) and 2 (FBN2) are components of microfibrils, microfilaments that are present in many connective tissues, either alone or in association with elastin.
Gaynor Miller, Monica Neilan, Ruth Chia, Nabeia Gheryani, Natalie Holt, Annabelle Charbit, Sara Wells, Valter Tucci, Zuzanne Lalanne, Paul Denny, Elizabeth M C Fisher, Michael Cheeseman, Graham N Askew, T Neil Dear   +13 more
doaj   +1 more source

Abnormal Activation of BMP Signaling Causes Myopathy in Fbn2 Null Mice.

PLoS Genetics, 2015
Fibrillins are large extracellular macromolecules that polymerize to form the backbone structure of connective tissue microfibrils. Mutations in the gene for fibrillin-1 cause the Marfan syndrome, while mutations in the gene for fibrillin-2 cause ...
Gerhard Sengle, Valerie Carlberg, Sara F Tufa, Noe L Charbonneau, Silvia Smaldone, Eric J Carlson, Francesco Ramirez, Douglas R Keene, Lynn Y Sakai   +8 more
doaj   +1 more source

Congenital contractural arachnodactyly Síndrome de la arcnodactilia contractural: estudio de un caso esporádico y revisión de la literatura

Iatreia, 1991
<p class="MsoNormal"><span style="font-size: 9pt; font-family: Arial">The Congenital Contractural Arachnodactyly Syndrome is a heredltary disorder of connective tissue characterized by multiple congenital contractures, arachnodactyly ...
Betty Nishikuni, Amanda Mejía, José Luis Ramírez Castro   +2 more
doaj  

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.

, 2008
Contains fulltext : 81654.pdf (Publisher’s version ) (Closed access)Beals-Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by crumpled ears ...
Magnus Landgren, De Paepe, Anne M., Hester Y. Kroes, Michael Pope, Kingston, Helen, De Paepe, Anne, Anna Ficcadenti, Orazio Gabrielli, De Backer, Julie, Francisco Galán, Kroes, Hester Y, Callewaert, Bert L., Landgren, M., Callewaert, Bert, Loeys, Bart, LOEYS BL, Marielle E. Swinkels, Bart L. Loeys, Helen Kingston, Gabreilli, Orazio, Nathalie Van der Aa, Loeys, B.L., Salcedo, I., Coucke, Paul J., FICCADENTI A, Paepe, A.M. De, Foulds, N., Yaron, Y., Pope, M., Ficcadenti, Anna, Sascha Vermeer, Swinkels, M.E., Backer, J. de, Paul J. Coucke, Vermeer, S., Pope, Michael, Van der Aa, Nathalie, Loeys, Bart L., Landgren, Magnus, Swinkels, Marielle E., Carina Wallgren-Pettersson, Iratxe Salcedo, Kroes, H.Y., Boute, O., CALLEWAERT BL, Odile Boute, Aa, N. van der, Nicola Foulds, Swinkels, Marielle E, Bert L. Callewaert, Foulds, Nicola, Gabrielli, Orazio, Kingston, H., Callewaert, B.L., Wallgren-Pettersson, Carina, Ficcadenti, A., Galan, F., Gabrielli, O., Yuval Yaron, Anne M. De Paepe, Kroes, Hester Y., Coucke, Paul, Coucke, P.J., Boute, Odile, Salcedo, Iratxe, Julie De Backer, Galán, Francisco, Vermeer, Sascha, Yaron, Yuval, Wallgren-Pettersson, C.   +69 more
core   +1 more source

A CASE OF BEALS' SYNDROME (CONGENİTAL CONTRACTURAL ARACHNODACTYLY)

, 1998
BEALS' SYNDROME, ALSO KNOWN AS CONGENİTAL CONTRACTURAL ARACHNODACTYLY, IS A RECENT RECOGNİZED DİSORDER CHARACTERİZED BY MULTİPLE JOİNT ...
Akçoral, Adnan, KARAOĞLAN, OSMAN, ÖZKAN, HASAN, ÖREN, HALE, ÖREN, Bahattin, ALICI, EMİN   +5 more
core  

The spectrum of arthrogryposis in 33 Chinese children

, 1997
The clinical profile of 33 children (19 boys, 14 girls) with multiple congenital contractures has been studied. The majority (54%) belong to arthrogryposis multiplex congenita with a static clinical course.
Wong, V
core   +1 more source