Search details
1.
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.
Genome Res
; 29(7): 1057-1066, 2019 07.
Article
in English
| MEDLINE | ID: mdl-31160375
2.
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.
PLoS Genet
; 13(1): e1006470, 2017 Jan.
Article
in English
| MEDLINE | ID: mdl-28081210
3.
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
Brain
; 140(3): 547-554, 2017 03 01.
Article
in English
| MEDLINE | ID: mdl-28052917
4.
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
Brain
; 140(4): 940-952, 2017 Apr 01.
Article
in English
| MEDLINE | ID: mdl-28334956
5.
Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.
Am J Hum Genet
; 94(1): 87-94, 2014 Jan 02.
Article
in English
| MEDLINE | ID: mdl-24239382
6.
Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.
Hum Mutat
; 37(11): 1157-1161, 2016 11.
Article
in English
| MEDLINE | ID: mdl-27492651
7.
A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations.
BMC Med Genet
; 16: 104, 2015 Nov 10.
Article
in English
| MEDLINE | ID: mdl-26554554
8.
Mutation of HERC2 causes developmental delay with Angelman-like features.
J Med Genet
; 50(2): 65-73, 2013 Feb.
Article
in English
| MEDLINE | ID: mdl-23243086
9.
Defective mitochondrial mRNA maturation is associated with spastic ataxia.
Am J Hum Genet
; 87(5): 655-60, 2010 Nov 12.
Article
in English
| MEDLINE | ID: mdl-20970105
10.
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.
Nat Genet
; 31(4): 347-8, 2002 Aug.
Article
in English
| MEDLINE | ID: mdl-12134148
11.
Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.
Nat Genet
; 36(11): 1225-9, 2004 Nov.
Article
in English
| MEDLINE | ID: mdl-15502825
12.
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.
Am J Hum Genet
; 82(2): 510-5, 2008 Feb.
Article
in English
| MEDLINE | ID: mdl-18252231
13.
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).
Hum Mutat
; 31(4): E1251-60, 2010 Apr.
Article
in English
| MEDLINE | ID: mdl-20104589
14.
Consanguinity and deafness in Omani children.
Int J Audiol
; 47(1): 30-3, 2008 Jan.
Article
in English
| MEDLINE | ID: mdl-18196484
15.
Presentation one: a neonate with swollen feet.
J Fam Health Care
; 22(5): 34-5, 2012.
Article
in English
| MEDLINE | ID: mdl-23311286
16.
A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome.
Nat Genet
; 47(7): 814-7, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-26005865
17.
Loss of PCLO function underlies pontocerebellar hypoplasia type III.
Neurology
; 84(17): 1745-50, 2015 Apr 28.
Article
in English
| MEDLINE | ID: mdl-25832664
18.
Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia.
J Neurol
; 251(9): 1105-10, 2004 Sep.
Article
in English
| MEDLINE | ID: mdl-15372254
19.
A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia.
J Neurol
; 251(9): 1068-74, 2004 Sep.
Article
in English
| MEDLINE | ID: mdl-15372247
20.
Oculoauriculovertebral spectrum phenotype caused by an unbalanced t(5;8)(p15.31;p23.1) rearrangement.
Clin Dysmorphol
; 13(3): 151-153, 2004 Jul.
Article
in English
| MEDLINE | ID: mdl-15194950