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Reply.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Molecular characterization of a t(9;12)(p21;q13) balanced chromosome translocation in combination with integrative genomics analysis identifies C9orf14 as a candidate tumor‐suppressor.
- Published in:
- Genes, Chromosomes & Cancer, 2007, v. 46, n. 2, p. 155, doi. 10.1002/gcc.20396
- By:
- Publication type:
- Article
Detection of the fragile X syndrome protein for the evaluation of FMR1 intermediate alleles.
- Published in:
- Human Genetics, 2000, v. 107, n. 2, p. 195, doi. 10.1007/s004390000349
- By:
- Publication type:
- Article
Molecular testing for fragile x: analysis of 5062 tests from 1105 fragile x families-performed in 12 clinical laboratories in Spain.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families--Performed in 12 Clinical Laboratories in Spain.
- Published in:
- BioMed Research International, 2014, v. 2014, p. 1, doi. 10.1155/2014/195793
- By:
- Publication type:
- Article
A melanoma-associated germline mutation in exon 1β inactivates p14ARF.
- Published in:
- Oncogene, 2001, v. 20, n. 39, p. 5543, doi. 10.1038/sj.onc.1204728
- By:
- Publication type:
- Article
Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterization.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 12, p. 822, doi. 10.1038/jhg.2010.119
- By:
- Publication type:
- Article
Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1694, doi. 10.1038/ejhg.2015.37
- By:
- Publication type:
- Article
Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma.
- Published in:
- 2017
- By:
- Publication type:
- letter
Reply.
- Published in:
- 2016
- By:
- Publication type:
- commentary
Reply: To PMID 25631192.
- Published in:
- 2015
- By:
- Publication type:
- letter
Reply.
- Published in:
- Annals of Neurology, 2015, v. 78, n. 1, p. 153, doi. 10.1002/ana.24418
- By:
- Publication type:
- Article
The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.
- Published in:
- 2015
- By:
- Publication type:
- journal article
The MC1R melanoma risk variant p. R160W is associated with Parkinson disease.
- Published in:
- Annals of Neurology, 2015, v. 77, n. 5, p. 889, doi. 10.1002/ana.24373
- By:
- Publication type:
- Article
The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington's Disease Patients.
- Published in:
- Molecular Neurobiology, 2017, v. 54, n. 5, p. 3906, doi. 10.1007/s12035-016-0305-5
- By:
- Publication type:
- Article
FXTAS in Spanish Patients with Ataxia: Support for Female FMR1 Premutation Screening.
- Published in:
- Molecular Neurobiology, 2007, v. 35, n. 3, p. 324, doi. 10.1007/s12035-007-0020-3
- By:
- Publication type:
- Article
Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 8, p. 921, doi. 10.1038/ejhg.2011.41
- By:
- Publication type:
- Article
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1353, doi. 10.1038/ejhg.2010.118
- By:
- Publication type:
- Article
Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 10, p. 1359, doi. 10.1038/ejhg.2009.51
- By:
- Publication type:
- Article
A novel mutation in JARID1C gene associated with mental retardation.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 583, doi. 10.1038/sj.ejhg.5201608
- By:
- Publication type:
- Article
Skewed X Inactivation in Women Carrying the FMR1 Premutation and Its Relation with Fragile-X-Associated Tremor/Ataxia Syndrome.
- Published in:
- Neurodegenerative Diseases, 2016, v. 16, n. 3/4, p. 290, doi. 10.1159/000441566
- By:
- Publication type:
- Article
Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2014, v. 165B, n. 6, p. 472, doi. 10.1002/ajmg.b.32250
- By:
- Publication type:
- Article
Chromosome microarray analysis should be offered to all invasive prenatal diagnostic testing following a normal rapid aneuploidy test result.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 4, p. 379, doi. 10.1111/cge.13810
- By:
- Publication type:
- Article
46,XY,18q+/46,XY,18q− mosaicism in a fragile X prenatal diagnosis.
- Published in:
- Prenatal Diagnosis, 2005, v. 25, n. 6, p. 448, doi. 10.1002/pd.1150
- By:
- Publication type:
- Article
Fetoplacental discrepancy involving structural abnormalities of chromosome 8 detected by prenatal diagnosis.
- Published in:
- Prenatal Diagnosis, 2003, v. 23, n. 4, p. 319, doi. 10.1002/pd.590
- By:
- Publication type:
- Article
Prenatal diagnosis of fragile X syndrome: (CGG)n expansion and methylation of chorionic villus samples.
- Published in:
- 1995
- By:
- Publication type:
- journal article
Carriage of One or Two FMR1 Premutation Alleles Seems to Have No Effect on Illness Severity in a FXTAS Female with an Autozygous FMR1 Premutation Allele.
- Published in:
- Cerebellum, 2016, v. 15, n. 5, p. 570, doi. 10.1007/s12311-016-0783-z
- By:
- Publication type:
- Article
FMR1 Premutation: Basic Mechanisms and Clinical Involvement.
- Published in:
- 2016
- By:
- Publication type:
- Editorial
Prenatal diagnosis of Kagami‐Ogata syndrome.
- Published in:
- Journal of Clinical Ultrasound, 2021, v. 49, n. 5, p. 498, doi. 10.1002/jcu.22942
- By:
- Publication type:
- Article
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 5, p. 1083, doi. 10.1007/s10545-011-9323-7
- By:
- Publication type:
- Article
Mutational analysis within the 3′ region of the PKD1 gene.
- Published in:
- Kidney International, 1999, v. 55, n. 4, p. 1225, doi. 10.1046/j.1523-1755.1999.00368.x
- By:
- Publication type:
- Article
Two novel mutations in exon 11 of the PAH gene (V1163 del TG and P362T) associated with classic phenylketonuria and mild phenylketonuria.
- Published in:
- Human Mutation, 1998, v. 11, n. 6, p. 482, doi. 10.1002/(SICI)1098-1004(1998)11:6<482::AID-HUMU15>3.0.CO;2-E
- By:
- Publication type:
- Article
Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes.
- Published in:
- Journal of Molecular Medicine, 2001, v. 78, n. 12, p. 721, doi. 10.1007/s001090000160
- By:
- Publication type:
- Article
Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias.
- Published in:
- Journal of Molecular Neuroscience, 2016, v. 58, n. 1, p. 83, doi. 10.1007/s12031-015-0646-y
- By:
- Publication type:
- Article
Paternal transmission of a FMR1 full mutation allele.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2795, doi. 10.1002/ajmg.a.38384
- By:
- Publication type:
- Article
12p13 rearrangements: 6 Mb deletion responsible for ID/MCA and reciprocal duplication without clinical responsibility.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1071, doi. 10.1002/ajmg.a.35287
- By:
- Publication type:
- Article
Heterogeneity of a Constitutional Complex Chromosomal Rearrangement in 2q.
- Published in:
- Cytogenetic & Genome Research, 2016, v. 148, n. 2/3, p. 156, doi. 10.1159/000445859
- By:
- Publication type:
- Article
Quantitative analysis of somatically acquired and constitutive uniparental disomy in gastrointestinal cancers.
- Published in:
- International Journal of Cancer, 2019, v. 144, n. 3, p. 513, doi. 10.1002/ijc.31936
- By:
- Publication type:
- Article