Results 161 to 170 of about 128,632 (290)

CUL3-Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype. [PDF]

Prenat Diagn
Gofin Y, Dery T, Tenne T, Yaacobi RG, Block E, Kalis ML, Mor-Shaked H, Douiev-Charpak L, Birnbaum R, Shohat M, Markovich O, Kidron D, Sukenik-Halevy R.   +12 more
europepmc   +1 more source

Pathogenic XPO1 Variants Cause a Dominant Neurodevelopmental Disorder

Purpose: XPO1 functions in key cellular processes, including nucleo-cytoplasmic export and mitosis. The gene is deleted in a subset of patients with the 2p15p16.1 microdeletion syndrome; however, no monogenic XPO1-related disorder has been described to ...
Chen, Yanmin, Jortveit, Marianne, Staffenberg, David A, Bendova, Sarka, Riley, Stephanie, Filges, Isabel, Angle, Brad, van Binsbergen, Ellen, Goodloe, Dana, Olney, Ann Haskins, Miny, Peter, Johnson, Ivy R, Abou Jamra, Rami, Scheuerle, Angela E, Spiller, Michael, Tveten, Kristian, Carere, Deanna Alexis, Perrier, Renee, Stokman, Marijn F, Alali, Abdulrazak, Bi, Weimin, Yu, Andrea C, Bodurtha, Joann N, van der Zwaag, Bert, Vuocolo, Blake, Caille-Benigni, Charlotte, Fischer, Jan, Prouteau, Clément, Rabin, Rachel, Nielsen, Shelly, Ziegler, Alban, Glinton, Kevin E, Koop, Klaas, Rosenfeld, Jill A, Vlckova, Marketa, von der Lippe, Charlotte, Vitalone, Kara, Bradbrook, Samuel, Monaghan, Kristin G, Balasubramanian, Meena, Oegema, Renske, Nedbalova, Pavla, Porrmann, Joseph, Dyer, Lisa M, Ramanathan, Subhadra, Hérissant, Lucas, Pappas, John, Sedlacek, Zdenek, van Jaarsveld, Richard H, Isidor, Bertrand, Ángeles Gómez-Cano, María, Hancarova, Miroslava, van Oirsouw, Amber S E, Costain, Gregory, Sierra, Roberta Ann, Bruel, Ange-Line, Robin, Nathaniel H, Herman, Isabella, Gold, June-Anne, van Gassen, Koen L I, Bontempo, Kelly, Palomares Bralo, María, Cogné, Benjamin, Mu, Weiyi, Jouret, Guillaume, Fisher, Heather, Bonneau, Dominique, Prchal, Jan, Jain, Mahim, Kamermans, Alwin, Hennig, Yvonne D, van Eerde, Albertien M, Longo, Nicola, Joset, Pascal, Fenckova, Michaela, Prchalova, Darina, Te Bogt, Emma A M, Lambert, Laëtitia, Holla, Øystein L   +78 more
core   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

<i>TRMT10A</i>-Related Neurodevelopmental Disorder Without Metabolic Findings. [PDF]

Hum Mutat
Ülker Üstebay D, Aksu Şahin İ, Üstebay S, Ünsel Bolat G, Bolat H.   +4 more
europepmc   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

FBXW7-Related Neurodevelopmental Disorder: Clinical Spectrum, Molecular Mechanisms, and Tumor Predisposition. [PDF]

Hum Mutat
Savasta S, Comisi FF, Fiumicelli E, Dell'Isola GB, Di Pasquale G, Mangano GD, Zagaroli L, Salpietro V, Verrotti A.   +8 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Expansion of the Phenotypic and Genotypic Spectrum of MED13L-Associated Neurodevelopmental Disorder: A Case Report and Literature Review. [PDF]

Mol Genet Genomic Med
Wang Z, Chen X, Cui Z, Qi X, Gu L, Liu Y, Zhao W, Jiang Y.   +7 more
europepmc   +1 more source

Measuring Child Disadvantage: Comparing Multidimensional and Socioeconomic Approaches for Predicting Developmental Outcomes

Australian Journal of Social Issues, EarlyView.
ABSTRACT Robust measurement of disadvantage is essential to identifying and addressing inequities in children's development. We tested how a multidimensional framework of child disadvantage performed relative to a traditional socioeconomic position (SEP) approach to predict developmental outcomes.
Wei Hong, Fiona Mensah, Elodie O'Connor, Shuaijun Guo, Sharon Goldfeld, Meredith O'Connor, Cindy Pham, Sarah Gray   +7 more
wiley   +1 more source