Results 181 to 190 of about 87,727 (384)

White–Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects

Clinical Genetics, EarlyView.
New insights into White–Sutton syndrome with a collection of 19 Italian patients. Due to its complexity, we stress the importance of a systematic evaluation following the diagnosis and a thoughtful management of patients. Preliminary genotype–phenotype correlation analysis suggests the association between disruptive splicing variants and more severe ...
Anna Facchini, Maria Pina Concas, Stefania Zampieri, Iris Scala, Claudio Graziano, Anna Maria Innoceta, Marina Trivisano, Angela De Dominicis, Gabriele Trimarchi, Livia Garavelli, Margherita Baldassarri, Ilaria De Maggio, Francesca Mari, Donatella Greco, Paolo Gasparini   +14 more
wiley   +1 more source

RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita

Clinical Genetics, EarlyView.
Using WGS and RNA analysis, we identified a branch point‐disrupting variant in the PARN gene and elucidated its pathogenic molecular mechanism in a child with atypical dyskeratosis congenita presentation. ABSTRACT Dyskeratosis congenita (DC) is a rare genetic disorder caused by impaired telomere maintenance, leading to diverse clinical manifestations ...
Daria Akimova, Natalia Semenova, Tatiana Cherevatova, Mikhail Skoblov   +3 more
wiley   +1 more source

Mid-Line Cleft Lip and Palate with Hydranencephaly and Microcephaly

, 1964
B Gans
openalex   +1 more source

Congenital microcephaly detected by prenatal ultrasound: genetic aspects and clinical significance [PDF]

, 2000
Nicolette S. den Hollander, Marja W. Wessels, Frans J. Los, N. T. C. Ursem, Martinus F. Niermeijer, J. W. Wladimiroff   +5 more
openalex   +1 more source

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies

Clinical Genetics, EarlyView.
Missense variants in TMEM17 disrupt its localization and function at the ciliary transition zone, leading to a wide range of ciliopathy phenotypes, from OFD6 and Joubert syndromes to Meckel syndrome. ABSTRACT Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability.
Lucile Boutaud, Chunmei Li, Candice Moncler, Laure Verlin, Meriem Garfa‐Traoré, Nicolas Bourgon, Dhruvin Akbari, Jeanne Porée, Valentina Serpieri, Marine Panza, Lynda Haddad, Patrick Nitschké, Jacqueline Aziza, Cristina Matt, Enza Maria Valente, Patricia Gargallo, Charlotte Dubucs, Tania Attié‐Bitach, Michel R. Leroux, Sophie Thomas   +19 more
wiley   +1 more source

Ocular Findings in Infants With Microcephaly Associated With Presumed Zika Virus Congenital Infection in Salvador, Brazil.

JAMA ophthalmology, 2016
B. de Paula Freitas, J. R. de Oliveira Dias, J. Prazeres, G. Sacramento, A. Ko, M. Maia, R. Belfort   +6 more
semanticscholar   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, EarlyView.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Zika Virus Disrupts Neural Progenitor Development and Leads to Microcephaly in Mice.

Cell Stem Cell, 2016
Cui Li, Dan Xu, Qing Ye, Shuai Hong, Yisheng Jiang, Xinyi Liu, N. Zhang, Lei Shi, C. Qin, Zhiheng Xu   +9 more
semanticscholar   +1 more source

Genetic Landscape of Robin Sequence: A Systematic Review

Clinical Genetics, EarlyView.
This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde, Aebele B. Mink van der Molen, Augusta M. A. Lachmeijer, Daan de Leijer, Jeroen J. Smits, Maarten P. G. Massink, Sarah L. Versnel, Marie‐José H. van den Boogaard, Emma C. Paes   +8 more
wiley   +1 more source

Organoid Models to Study Human Infectious Diseases

Cell Proliferation, EarlyView.
Our manuscript reviews the role of organoids as models for studying human infectious diseases, highlighting their irreplaceable contributions to drug testing and vaccine development for significant infectious diseases including HIV, ZIKV, SARS‐CoV‐2 and MPXV.
Sijing Zhu, Dan Chen, Xinzhi Yang, Liuliu Yang, Yuling Han   +4 more
wiley   +1 more source