Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth …
KM Davey, JS Parboosingh, DR McLeod… - Journal of medical …, 2006 - jmg.bmj.com
Background: A novel autosomal recessive condition, dilated cardiomyopathy with ataxia
(DCMA) syndrome, has been identified in the Canadian Dariusleut Hutterite population …
(DCMA) syndrome, has been identified in the Canadian Dariusleut Hutterite population …
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic
disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects …
disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects …
[PDF][PDF] Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome
FP Bernier, O Caluseriu, S Ng… - The American Journal of …, 2012 - cell.com
Nager syndrome, first described more than 60 years ago, is the archetype of a class of
disorders called the acrofacial dysostoses, which are characterized by craniofacial and limb …
disorders called the acrofacial dysostoses, which are characterized by craniofacial and limb …
[PDF][PDF] TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone
Joubert syndrome related disorders (JSRDs) have broad but variable phenotypic overlap
with other ciliopathies. The molecular etiology of this overlap is unclear but probably arises …
with other ciliopathies. The molecular etiology of this overlap is unclear but probably arises …
[PDF][PDF] Autosomal-recessive intellectual disability with cerebellar atrophy syndrome caused by mutation of the manganese and zinc transporter gene SLC39A8
KM Boycott, CL Beaulieu, KD Kernohan… - The American Journal of …, 2015 - cell.com
Manganese (Mn) and zinc (Zn) are essential divalent cations used by cells as protein
cofactors; various human studies and animal models have demonstrated the importance of …
cofactors; various human studies and animal models have demonstrated the importance of …
[PDF][PDF] Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification
KM Boycott, S Flavelle, A Bureau, HC Glass… - The American Journal of …, 2005 - cell.com
An autosomal recessive syndrome of nonprogressive cerebellar ataxia and mental
retardation is associated with inferior cerebellar hypoplasia and mild cerebral gyral …
retardation is associated with inferior cerebellar hypoplasia and mild cerebral gyral …
[HTML][HTML] Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases.
A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of …
A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of …
Clinical genetics and the Hutterite population: a review of Mendelian disorders
KM Boycott, JS Parboosingh… - American journal of …, 2008 - Wiley Online Library
Abstract The Hutterian Bretheren is an isolated population living on the North American
prairies, the current community exceeding 40,000 in number. Their unique genetic history …
prairies, the current community exceeding 40,000 in number. Their unique genetic history …
[PDF][PDF] TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations
JA O'Rawe, Y Wu, MJ Dörfel, AF Rope, PYB Au… - The American Journal of …, 2015 - cell.com
We describe an X-linked genetic syndrome associated with mutations in TAF1 and
manifesting with global developmental delay, intellectual disability (ID), characteristic facial …
manifesting with global developmental delay, intellectual disability (ID), characteristic facial …
[PDF][PDF] A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency
R Buchert, H Tawamie, C Smith, S Uebe… - The American Journal of …, 2014 - cell.com
Rhizomelic chondrodysplasia punctata (RCDP) is a group of disorders with overlapping
clinical features including rhizomelia, chondrodysplasia punctata, coronal clefts, cervical …
clinical features including rhizomelia, chondrodysplasia punctata, coronal clefts, cervical …