Results 111 to 120 of about 1,020 (134)

Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda. [PDF]

BMC Med Genomics
Uwibambe E, Yalcouyé A, Aboagye ET, Xhakaza L, Popel K, Dukuze N, Bharadwaj T, de Kock C, Schrauwen I, Leal SM, Mutesa L, Wonkam A.   +11 more
europepmc   +1 more source

AI-Based Facial Phenotyping Supports a Shared Molecular Axis in <i>PACS1</i>-, <i>PACS2</i>-, and <i>WDR37</i>-Related Syndromes. [PDF]

Int J Mol Sci
Del Rincón J, Gil-Salvador M, Lucia-Campos C, Acero L, Trujillano L, Arnedo M, Pamplona P, Ayerza-Casas A, Puisac B, Ramos FJ, Pié J, Latorre-Pellicer A.   +11 more
europepmc   +1 more source

A Nine-Year-Old Girl With Cornelia de Lange Syndrome: A Case Report and Review of the Literature. [PDF]

Cureus
Bahari H, Zahiri H, Elouali A, Rkain M, Babakhouya A.   +4 more
europepmc   +1 more source

Whole exome sequencing uncovers genetic syndromes and putative candidate genes underlying orofacial clefts presenting with limb abnormalities in a Sub-Saharan African cohort. [PDF]

BMC Med Genomics
Tackie E, Obiri-Yeboah S, Mensah GO, Busch TD, Tsri B, Sabbah DK, Asamoah CO, Oti AA, Plange-Rhule G, Adeyemo AA, Donkor P, Butali A, Gowans LJJ.   +12 more
europepmc   +1 more source

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Communication, Cognitive Development and Behavior in Children With Cornelia De Lange Syndrome (CdLS): Preliminary Results

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2014
In this study, we present preliminary data on cognitive, behavioral and communication domains of individuals with Cornelia de Lange Syndrome (CdLS), collected through a specific protocol combining direct and indirect tools. Seventeen subjects with CdLS were assessed, 2.5‐ to 13.4‐year‐old.
Angelo Selicorni, Paola Francesca Ajmone, Anna Cereda   +2 more
exaly   +3 more sources

Cornelia De Lange Syndrome and Congenital Diaphragmatic Hernia

Journal of Pediatric Surgery, 2021
Vikas S Gupta, Matthew T Harting, Ashley H Ebanks   +2 more
exaly  

Genomic Analyses in Cornelia De Lange Syndrome and Related Diagnoses: Novel Candidate Genes, Genotype–Phenotype Correlations and Common Mechanisms

American Journal of Medical Genetics, Part A, 2023
Jesús Argente, Antonio Musio, Omar A Abdul-Rahman   +2 more
exaly  

Dominant Paternal Transmission of Cornelia De Lange Syndrome: A New Case and Review of 25 Previously Reported Familial Recurrences

American Journal of Medical Genetics, Part A, 2001
Ian D Krantz, Jeffrey E Ming, J E Ming
exaly  

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome

American Journal of Medical Genetics, Part A, 2005
Marcella Devoto, Ian D Krantz, Cheryl Descipio   +2 more
exaly