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Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis.
- Published in:
- 2007
- By:
- Publication type:
- journal article
The AQP1 del601G mutation in different European Romani (Gypsy) populations.
- Published in:
- 2016
- By:
- Publication type:
- Letter to the Editor
Congenital Cataracts -- Facial Dysmorphism -- Neuropathy.
- Published in:
- Orphanet Journal of Rare Diseases, 2006, v. 1, p. 32, doi. 10.1186/1750-1172-1-32
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- Publication type:
- Article
Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32.
- Published in:
- Epilepsia (Series 4), 2009, v. 50, n. 7, p. 1679, doi. 10.1111/j.1528-1167.2009.02066.x
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- Publication type:
- Article
Detecting Population Growth, Selection and Inherited Fertility From Haplotypic Data in Humans.
- Published in:
- Genetics, 2003, v. 165, n. 3, p. 1579, doi. 10.1093/genetics/165.3.1579
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- Publication type:
- Article
A polygenic risk score analysis of psychosis endophenotypes across brain functional, structural, and cognitive domains.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 1, p. 21, doi. 10.1002/ajmg.b.32581
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- Publication type:
- Article
Impact of the Reelin Signaling Cascade (Ligands-Receptors-Adaptor Complex) on Cognition in Schizophrenia.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2012, v. 159B, n. 4, p. 392, doi. 10.1002/ajmg.b.32042
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- Publication type:
- Article
Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX.
- Published in:
- Nature Genetics, 2002, v. 31, n. 3, p. 272, doi. 10.1038/ng918
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- Publication type:
- Article
Y-Chromosome Analysis in Individuals Bearing the Basarab Name of the First Dynasty of Wallachian Kings.
- Published in:
- PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0041803
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- Publication type:
- Article
Deleterious GRM1 Mutations in Schizophrenia.
- Published in:
- PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0032849
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- Publication type:
- Article
Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome.
- Published in:
- Behavioural Neurology, 2015, v. 2015, p. 1, doi. 10.1155/2015/639539
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- Publication type:
- Article
Exclusion of Linkage to the HLA Region in Ninety Multiplex Sibships with Autism.
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- Journal of Autism & Developmental Disorders, 1999, v. 29, n. 3, p. 195, doi. 10.1023/A:1023075904742
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- Publication type:
- Article
Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1218, doi. 10.1038/ejhg.2011.128
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- Publication type:
- Article
A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy – Russe (HMSNR).
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1606, doi. 10.1038/ejhg.2009.99
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- Publication type:
- Article
Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 2, p. 97, doi. 10.1038/sj.ejhg.5200597
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- Publication type:
- Article
Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 5, p. 560, doi. 10.1038/sj.ejhg.5200319
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- Publication type:
- Article
A newly discovered founder population: the Roma/Gypsies.
- Published in:
- BioEssays, 2005, v. 27, n. 10, p. 1084, doi. 10.1002/bies.20287
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- Publication type:
- Article
Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 4, p. 1050
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- Publication type:
- Article
Autoimmunoreactivity to Schwann cells in patients with inflammatory neuropathies.
- Published in:
- Brain: A Journal of Neurology, 2003, v. 126, n. 2, p. 361, doi. 10.1093/brain/awg030
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- Publication type:
- Article
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.
- Published in:
- 2016
- By:
- Publication type:
- journal article
A standard protocol for single nucleotide primer extension in the human genome using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.
- Published in:
- Rapid Communications in Mass Spectrometry: RCM, 2003, v. 17, n. 11, p. 1195, doi. 10.1002/rcm.1038
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- Publication type:
- Article
Hereditary motor and sensory neuropathy-russe: new autosomal recessive neuropathy in Balkan Gypsies.
- Published in:
- 2001
- By:
- Publication type:
- journal article
ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies.
- Published in:
- Journal of Neurology, 2012, v. 259, n. 5, p. 906, doi. 10.1007/s00415-011-6276-6
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- Publication type:
- Article
Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4302, doi. 10.1093/hmg/ddw263
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- Publication type:
- Article
Early Clinical and Electrophysiologic Features of the Two Most Common Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in the Roma (Gypsies).
- Published in:
- Journal of Child Neurology, 2006, v. 21, n. 1, p. 20, doi. 10.1177/08830738060210010401
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- Publication type:
- Article
Angiotensin‐converting enzyme activity and the ACE Alu polymorphism in autosomal dominant polycystic kidney disease.
- Published in:
- Nephrology Dialysis Transplantation, 2001, v. 16, n. 12, p. 2323, doi. 10.1093/ndt/16.12.2323
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- Publication type:
- Article
Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma.
- Published in:
- Genes, 2024, v. 15, n. 9, p. 1144, doi. 10.3390/genes15091144
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- Publication type:
- Article
Hereditary auditory, vestibular, motor, and sensory neuropathy in a Slovenian Roma (Gypsy) kindred.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan gypsies: Clinical and electrophysiological observations.
- Published in:
- Annals of Neurology, 1999, v. 45, n. 6, p. 742, doi. 10.1002/1531-8249(199906)45:6<742::AID-ANA8>3.0.CO;2-N
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- Publication type:
- Article
RefGenes: identification of reliable and condition specific reference genes for RT-qPCR data normalization.
- Published in:
- BMC Genomics, 2011, v. 12, p. 1, doi. 10.1186/1471-2164-12-156
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- Publication type:
- Article
RefGenes: identification of reliable and condition specific reference genes for RT-qPCR data normalization.
- Published in:
- BMC Genomics, 2011, v. 12, n. 1, p. 156, doi. 10.1186/1471-2164-12-156
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- Publication type:
- Article
Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Reply: Mutations in TUBB4A and spastic paraplegia.
- Published in:
- 2015
- By:
- Publication type:
- commentary
Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.
- Published in:
- Movement Disorders, 2015, v. 30, n. 6, p. 854, doi. 10.1002/mds.26196
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- Publication type:
- Article
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease (Communicated by Christine van Broeckhoven).
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 129, doi. 10.1002/humu.10240
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- Publication type:
- Article
Mutation screening of the N?myc downstream?regulated gene 1 (NDRG1) in patients with Charcot?Marie?Tooth DiseaseCommunicated by Christine van Broeckhoven.
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 129, doi. 10.1002/humu.10240
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- Publication type:
- Article
Mutation detection in the duplicated region of the polycystic kidney disease 1 ( PKD1) gene in PKD1-linked Australian families.
- Published in:
- Human Mutation, 2002, v. 19, n. 3, p. 240, doi. 10.1002/humu.10045
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- Publication type:
- Article
Novel mutations in the GALK1 gene in patients with galactokinase deficiency.
- Published in:
- Human Mutation, 2001, v. 17, n. 1, p. 77, doi. 10.1002/1098-1004(2001)17:1<77::AID-HUMU20>3.0.CO;2-H
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- Publication type:
- Article
Screening the 3′ region of the polycystic kidney disease 1 (PKD1) gene in 41 Bulgarian and Australian kindreds reveals a prevalence of protein truncating mutations.
- Published in:
- Human Mutation, 2000, v. 16, n. 2, p. 166, doi. 10.1002/1098-1004(200008)16:2<166::AID-HUMU9>3.0.CO;2-4
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- Publication type:
- Article
SSCP analysis: A blind sensitivity trial.
- Published in:
- Human Mutation, 1997, v. 10, n. 1, p. 65, doi. 10.1002/(SICI)1098-1004(1997)10:1<65::AID-HUMU9>3.0.CO;2-L
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- Publication type:
- Article
Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation.
- Published in:
- Human Mutation, 1995, v. 6, n. 3, p. 219, doi. 10.1002/humu.1380060304
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- Publication type:
- Article
Analysis of exon 7 of the human phenylalanine hydroxylase gene: A mutation hot spot?
- Published in:
- Human Mutation, 1992, v. 1, n. 2, p. 138, doi. 10.1002/humu.1380010209
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- Publication type:
- Article
2176insC: A Novel Mutation in Exon 13 of the Cystic Fibrosis Gene.
- Published in:
- Human Heredity, 1996, v. 46, n. 3, p. 166, doi. 10.1159/000154346
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- Publication type:
- Article
Double mutant alleles: are they rare?
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 7, p. 1169
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- Publication type:
- Article
G1244V: a novel missense mutation in exon 20 of the CFTR gene in a Bulgarian cystic fibrosis patient.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 3, p. 513
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- Publication type:
- Article
Genetic studies of the Roma (Gypsies): a review.
- Published in:
- BMC Medical Genetics, 2001, v. 2, p. 5, doi. 10.1186/1471-2350-2-5
- By:
- Publication type:
- Article