Found: 44
Select item for more details and to access through your institution.
CCDC88A mutations cause PEHO-like syndrome in humans and mouse.
- Published in:
- 2016
- By:
- Publication type:
- journal article
A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Transcriptional regulator PRDM12 is essential for human pain perception.
- Published in:
- Nature Genetics, 2015, v. 47, n. 7, p. 803, doi. 10.1038/ng.3308
- By:
- Publication type:
- Article
A primary microcephaly protein complex forms a ring around parental centrioles.
- Published in:
- Nature Genetics, 2011, v. 43, n. 11, p. 1147, doi. 10.1038/ng.971
- By:
- Publication type:
- Article
WDR62 is associated with the spindle pole and is mutated in human microcephaly.
- Published in:
- Nature Genetics, 2010, v. 42, n. 11, p. 1010, doi. 10.1038/ng.682
- By:
- Publication type:
- Article
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.
- Published in:
- Nature Genetics, 2009, v. 41, n. 9, p. 1027, doi. 10.1038/ng.427
- By:
- Publication type:
- Article
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.
- Published in:
- 2006
- By:
- Publication type:
- Letter
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
- Published in:
- Nature Genetics, 2006, v. 38, n. 2, p. 191, doi. 10.1038/ng1713
- By:
- Publication type:
- Article
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.
- Published in:
- Nature Genetics, 2005, v. 37, n. 4, p. 353, doi. 10.1038/ng1539
- By:
- Publication type:
- Article
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.
- Published in:
- Nature Genetics, 2003, v. 33, n. 4, p. 497, doi. 10.1038/ng1129
- By:
- Publication type:
- Article
ASPM is a major determinant of cerebral cortical size.
- Published in:
- Nature Genetics, 2002, v. 32, n. 2, p. 316, doi. 10.1038/ng995
- By:
- Publication type:
- Article
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis.
- Published in:
- Nature Genetics, 1999, v. 23, n. 4, p. 421, doi. 10.1038/70525
- By:
- Publication type:
- Article
Regulation of Na<sub>v</sub>1.7: A Conserved SCN9A Natural Antisense Transcript Expressed in Dorsal Root Ganglia.
- Published in:
- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0128830
- By:
- Publication type:
- Article
Splice Variants of Na<sub>V</sub>1.7 Sodium Channels Have Distinct β Subunit-Dependent Biophysical Properties.
- Published in:
- PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0041750
- By:
- Publication type:
- Article
Pain, pain genetics, and 'next-generation' pain genetics.
- Published in:
- Developmental Medicine & Child Neurology, 2011, v. 53, n. 10, p. 874, doi. 10.1111/j.1469-8749.2011.04015.x
- By:
- Publication type:
- Article
Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders.
- Published in:
- BMC Neurology, 2004, v. 4, p. 20, doi. 10.1186/1471-2377-4-20
- By:
- Publication type:
- Article
A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.
- Published in:
- Human Genetics, 2002, v. 111, n. 4/5, p. 456, doi. 10.1007/s00439-002-0817-0
- By:
- Publication type:
- Article
Characterisation of interstitial duplications and triplications of chromosome 15q11–q13.
- Published in:
- Human Genetics, 2002, v. 110, n. 3, p. 227, doi. 10.1007/s00439-002-0678-6
- By:
- Publication type:
- Article
The phenotype of congenital insensitivity to pain due to the Na<sub>V</sub>1.9 variant p.L811P.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1434, doi. 10.1038/ejhg.2015.163
- By:
- Publication type:
- Article
The phenotype of congenital insensitivity to pain due to the Na<sub>V</sub>1.9 variant p.L811P.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 561, doi. 10.1038/ejhg.2014.166
- By:
- Publication type:
- Article
Evolutionary Genetics: Is brain evolution still continuing in modern humans?
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 7, p. 799, doi. 10.1038/sj.ejhg.5201624
- By:
- Publication type:
- Article
MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 543, doi. 10.1038/sj.ejhg.5201577
- By:
- Publication type:
- Article
Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 4, p. 418, doi. 10.1038/sj.ejhg.5201593
- By:
- Publication type:
- Article
The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1–13.2.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 815, doi. 10.1038/sj.ejhg.5200385
- By:
- Publication type:
- Article
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype–phenotype correlations.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 267, doi. 10.1038/sj.ejhg.5200289
- By:
- Publication type:
- Article
Peripheral sensory neuropathies – pain loss vs. pain gain.
- Published in:
- Medizinische Genetik, 2020, p. 233, doi. 10.1515/medgen-2020-2039
- By:
- Publication type:
- Article
Peripheral sensory neuropathies – pain loss vs. pain gain.
- Published in:
- Medizinische Genetik, 2020, p. 233, doi. 10.1515/medgen-2020-2039
- By:
- Publication type:
- Article
A third HSAN5 mutation disrupts the nerve growth factor furin cleavage site.
- Published in:
- Molecular Pain, 2018, v. 14, p. 1, doi. 10.1177/1744806918809223
- By:
- Publication type:
- Article
The role of genomic imprinting.
- Published in:
- Medical Journal of Australia, 1993, v. 158, n. 12, p. 801, doi. 10.5694/j.1326-5377.1993.tb137663.x
- By:
- Publication type:
- Article
Loss-of-function mutations in sodium channel Na<sub>v</sub>1.7 cause anosmia.
- Published in:
- Nature, 2011, v. 472, n. 7342, p. 186, doi. 10.1038/nature09975
- By:
- Publication type:
- Article
An SCN9A channelopathy causes congenital inability to experience pain.
- Published in:
- Nature, 2006, v. 444, n. 7121, p. 894, doi. 10.1038/nature05413
- By:
- Publication type:
- Article
Potassium permanganate and tetraethylammonium chloride are a safe and effective substitute for osmium tetroxide in solid-phase fluorescent chemical cleavage of mismatch.
- Published in:
- Nucleic Acids Research, 1997, v. 25, n. 16, p. 3377, doi. 10.1093/nar/25.16.3377
- By:
- Publication type:
- Article
A CEP215-HSET complex links centrosomes with spindle poles and drives centrosome clustering in cancer.
- Published in:
- Nature Communications, 2016, v. 7, n. 3, p. 11005, doi. 10.1038/ncomms11005
- By:
- Publication type:
- Article
Distinguishing the four genetic causes of jouberts syndrome–related disorders.
- Published in:
- Annals of Neurology, 2005, v. 57, n. 4, p. 513
- By:
- Publication type:
- Article
Functional SNP allele discovery (fSNPd): an approach to find highly penetrant, environmental-triggered genotypes underlying complex human phenotypes.
- Published in:
- BMC Genomics, 2017, v. 18, p. 1, doi. 10.1186/s12864-017-4325-y
- By:
- Publication type:
- Article
Understanding the genetic basis of congenital insensitivity to pain.
- Published in:
- British Medical Bulletin, 2020, v. 133, n. 1, p. 65, doi. 10.1093/bmb/ldaa003
- By:
- Publication type:
- Article
Accelerated Evolution of the ASPM Gene Controlling Brain Size Begins Prior to Human Brain Expansion.
- Published in:
- PLoS Biology, 2004, v. 2, n. 5, p. 653, doi. 10.1371/journal.pbio.0020126
- By:
- Publication type:
- Article
Accelerated Evolution of the ASPM Gene Controlling Brain Size Begins Prior to Human Brain Expansion.
- Published in:
- PLoS Biology, 2004, v. 2, n. 3, p. 1, doi. 10.1371/journal.pbio.0020126
- By:
- Publication type:
- Article
The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis.
- Published in:
- Genes, Chromosomes & Cancer, 2003, v. 37, n. 2, p. 132, doi. 10.1002/gcc.10191
- By:
- Publication type:
- Article
Human ASPM participates in spindle organisation, spindle orientation and cytokinesis.
- Published in:
- BMC Cell Biology, 2010, v. 11, p. 85, doi. 10.1186/1471-2121-11-85
- By:
- Publication type:
- Article
Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome).
- Published in:
- PLoS Genetics, 2009, v. 5, n. 3, p. 1, doi. 10.1371/journal.pgen.1000423
- By:
- Publication type:
- Article
A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV).
- Published in:
- Human Mutation, 2017, v. 38, n. 1, p. 55, doi. 10.1002/humu.23123
- By:
- Publication type:
- Article
Germline Mutations in the PTEN/MMAC1 Gene in Patients With Cowden Disease.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 8, p. 1383, doi. 10.1093/hmg/6.8.1383
- By:
- Publication type:
- Article
Novel SCN9A Mutations Underlying Extreme Pain Phenotypes: Unexpected Electrophysiological and Clinical Phenotype Correlations.
- Published in:
- 2015
- By:
- Publication type:
- Case Study