The longer term outcome of children born to mothers with epilepsy
Objectives: To determine the prevalence of cognitive delay and possible associated
dysmorphic features in children exposed to antiepileptic drugs (AEDs) in utero. Design: …
dysmorphic features in children exposed to antiepileptic drugs (AEDs) in utero. Design: …
Physiology of bone formation, remodeling, and metabolism
U Kini, BN Nandeesh - Radionuclide and hybrid bone imaging, 2012 - Springer
Bone, a highly specialized supporting framework of the body, is characterized by its rigidity
and hardness and is endowed with the power of regeneration and repair. Its formation is …
and hardness and is endowed with the power of regeneration and repair. Its formation is …
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
To assess factors influencing the success of whole-genome sequencing for mainstream
clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families …
clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families …
[HTML][HTML] The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
…, M Koenig, C Mignot, DDD Study, U Kini… - Genetics in …, 2019 - nature.com
… u–v Plagiocephaly and asymmetric lateral ventricle on axial T2 planes. w P19 sagittal T1
circular lesions (hyposignal) of the medial part of the corpus callosum. m month, P patient, y …
circular lesions (hyposignal) of the medial part of the corpus callosum. m month, P patient, y …
Mandibulofacial dysostosis with microcephaly: mutation and database update
…, J Johnson, SK Joss, A Kimball, U Kini… - Human …, 2016 - Wiley Online Library
Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome
comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in …
comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in …
Neuropsychological effects of exposure to anticonvulsant medication in utero
Objective: To investigate the long-term differential drug effects on cognitive functioning in
school-aged children exposed to antiepileptic drugs (AEDs) in utero. Methods: Mothers with …
school-aged children exposed to antiepileptic drugs (AEDs) in utero. Methods: Mothers with …
[PDF][PDF] Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling
…, A Fryer, A Ross, P Vasudevan, U Kini… - The American Journal of …, 2015 - cell.com
Intellectual disability (ID) affects approximately 1%–3% of humans with a gender bias
toward males. Previous studies have identified mutations in more than 100 genes on the X …
toward males. Previous studies have identified mutations in more than 100 genes on the X …
[PDF][PDF] Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising
craniofacial malformations, microcephaly, developmental delay, and a recognizable …
craniofacial malformations, microcephaly, developmental delay, and a recognizable …
Update on Kleefstra syndrome
…, N Philip, EM Berry-Kravis, U Kini… - Molecular …, 2012 - karger.com
Kleefstra syndrome is characterized by the core phenotype of developmental delay/intellectual
disability,(childhood) hypotonia and distinct facial features. The syndrome can be either …
disability,(childhood) hypotonia and distinct facial features. The syndrome can be either …
C offin–S iris syndrome and the BAF complex: Genotype–phenotype Study in 63 patients
…, SG Kant, S Kapoor, H Kingston, U Kini… - Human …, 2013 - Wiley Online Library
De novo germline variants in several components of the SWI/SNF‐like BAF complex can
cause C offin– S iris syndrome ( CSS ), N icolaides– B araitser syndrome ( NCBRS ), and …
cause C offin– S iris syndrome ( CSS ), N icolaides– B araitser syndrome ( NCBRS ), and …