Patrice Eydoux

The Eμ-Ret mouse is a novel model of hyperdiploid B-cell acute lymphoblastic leukemia

Ali Farrokhi, Tanmaya Atre, Jenna Rever, Mario Fidanza et autres

The presence of supernumerary chromosomes is the only abnormality shared by all patients diagnosed with high-hyperdiploid B cell acute lymphoblastic leukemia (HD-ALL). Despite being the most frequently diagnosed pediatric leukemia, the lack of clonal molecular lesions and complete absence of appropriate experimental …

ca, de, us (code pays fourni par la source)

An approach to rapid characterization of DMD copy number variants for prenatal risk assessment

Hui-Lin L. Chin, Kieran O’Neill, Kristal Louie, Lindsay A Brown et autres

Prenatal detection of structural variants of uncertain significance, including copy number variants (CNV), challenges genetic counseling, and creates ambiguity for expectant parents. In Duchenne muscular dystrophy, variant classification and phenotypic severity of CNVs are currently assessed by familial segregation, prediction of the …

ca, sg (code pays fourni par la source)

Renpenning syndrome in a female

Raymond Y. Cho, Maria S. Peñaherrera, Christèle du Souich, Lijia Huang et autres

Renpenning syndrome (OMIM: 309500) is a rare X-linked disorder that causes intellectual disability, microcephaly, short stature, a variety of eye anomalies, and characteristic craniofacial features. This condition results from pathogenic variation of PQBP1, a polyglutamine-binding protein involved in transcription and pre-mRNA splicing. …

ca (code pays fourni par la source)

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

Michelle K. Demos, Ilaria Guella, C DeGuzman, Marna B. McKenzie et autres

Targeted whole-exome sequencing (WES) is a powerful diagnostic tool for a broad spectrum of heterogeneous neurological disorders. Here, we aim to examine the impact on diagnosis, treatment and cost with early use of targeted WES in early-onset epilepsy. WES was performed on …

ca, ch, nl, us (code pays fourni par la source)

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

Ilaria Guella, Marna B. McKenzie, Daniel M. Evans, Sarah E. Buerki et autres

ca, ch, gb, nl, fr (code pays fourni par la source)

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

Anna Lehman, Samrat Thouta, Grazia M. S. Mancini, Sakkubai Naidu et autres

ca, nl, us (code pays fourni par la source)

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-onset Epilepsy

Michelle K. Demos, Ilaria Guella, Marna B. McKenzie, Sarah E. Buerki et autres

Abstract Background To examine the impact on diagnosis, treatment and cost with early use of targeted whole-exome sequencing (WES) in early-onset epilepsy. Methods WES was performed on 50 patients with early-onset epilepsy (≤ 5 years) of unknown cause. Patients were classified as …

ca, ch, us (code pays fourni par la source)

Engraftment and Long-Term Survival at Low Burden of Leukemic Blasts from Primary MRD+ Human Bone Marrow in a Xenotransplant Setting

Nina Rolf, Angela Tsang, Abbas Fotovati, Arnawaz Bashir et autres

Abstract Minimal residual disease (MRD) in bone marrow (BM) at the end of induction or re-induction chemotherapy is a critical prognostic factor for long-term survival of children with acute lymphoblastic leukemia (ALL). The presence of submicroscopic disease is a significant predictor of …

ca (code pays fourni par la source)

Diagnosis of Van den Ende–Gupta syndrome: Approach to the Marden–Walker‐like spectrum of disorders

Karen Y. Niederhoffer, Somayyeh Fahiminiya, Patrice Eydoux, John Mawson et autres

Marden-Walker syndrome is challenging to diagnose, as there is significant overlap with other multi-system congenital contracture syndromes including Beals congenital contractural arachnodactyly, D4ST1-Deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome), Schwartz-Jampel syndrome, Freeman-Sheldon syndrome, Cerebro-oculo-facio-skeletal syndrome, and Van den Ende-Gupta syndrome. We discuss this …

ca, jp (code pays fourni par la source)

A.01 Targeted analysis of whole exome sequencing and genotype-phenotype correlation in epileptic encephalopathies

SE Buerki, EB Toyota, Ilaria Guella, Marna B. McKenzie et autres

Background: Epileptic encephalopathy (EE) is a severe condition in which epileptic activity itself may contribute to severe cognitive and behavioural impairments above and beyond what might be expected from the underlying pathology alone. Next generation sequencing technologies such as whole exome sequencing …

ca (code pays fourni par la source)

Exome Sequencing and the Management of Neurometabolic Disorders

Maja Tarailo‐Graovac, Casper Shyr, Colin J. Ross, Gabriella Ana Horvath et autres

BACKGROUND: Whole-exome sequencing has transformed gene discovery and diagnosis in rare diseases. Translation into disease-modifying treatments is challenging, particularly for intellectual developmental disorder. However, the exception is inborn errors of metabolism, since many of these disorders are responsive to therapy that targets …

ca, us, gb, sa, ch, bh, gr, nl (code pays fourni par la source)

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability

Valerie V. Braden Maduro, Barbara N. Pusey, Praveen F. Cherukuri, Paul Atkins et autres

BACKGROUND: Mutations of TCF4, which encodes a basic helix-loop-helix transcription factor, cause Pitt-Hopkins syndrome (PTHS) via multiple genetic mechanisms. TCF4 is a complex locus expressing multiple transcripts by alternative splicing and use of multiple promoters. To address the relationship between mutation of …

us, ca (code pays fourni par la source)