Found: 51
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Expanding the phenotype of alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature.
- Published in:
- 2008
- By:
- Publication type:
- journal article
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.
- Published in:
- 2008
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- Publication type:
- journal article
Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literature.
- Published in:
- 2008
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- Publication type:
- journal article
Interstitial Deletion of 5q22.2q23.1 Including APC and TSSK1B in a Patient with Adenomatous Polyposis and Asthenoteratozoospermia.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 5, p. 235, doi. 10.1159/000492516
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- Publication type:
- Article
Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 2, p. 93, doi. 10.1159/000455028
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- Publication type:
- Article
Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0113-9
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- Publication type:
- Article
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/ split-foot malformation: array CGH screening of 134 unrelated families.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0108-6
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- Publication type:
- Article
Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.
- Published in:
- 2014
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- Publication type:
- Case Study
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00593-w
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- Publication type:
- Article
New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 7, p. 2168, doi. 10.3390/jcm9072168
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- Publication type:
- Article
Partial trisomy 1q41-qter and partial trisomy 9pter-9q21.32 in a newborn infant: An array CGH analysis and review.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 490, doi. 10.1002/ajmg.a.36278
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- Publication type:
- Article
Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 131, doi. 10.1002/ajmg.a.35700
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- Publication type:
- Article
Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 218, doi. 10.1002/ajmg.a.35695
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- Publication type:
- Article
Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: Phenotypic and genotypic findings.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3075, doi. 10.1002/ajmg.a.34300
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- Publication type:
- Article
Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia.
- Published in:
- 2009
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- Publication type:
- Letter
Corrigendum: Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
- Published in:
- 2008
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- Publication type:
- Correction Notice
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
- Published in:
- Nature Genetics, 2008, v. 40, n. 9, p. 1065, doi. 10.1038/ng.194
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- Publication type:
- Article
De novo partial deletion in GRID2 presenting with complicated spastic paraplegia.
- Published in:
- Muscle & Nerve, 2014, v. 49, n. 2, p. 289, doi. 10.1002/mus.24096
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- Publication type:
- Article
Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities.
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- Muscle & Nerve, 2007, v. 35, n. 3, p. 396, doi. 10.1002/mus.20705
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- Publication type:
- Article
A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q.
- Published in:
- Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie, 2020, v. 48, n. 6, p. 478, doi. 10.1024/1422-4917/a000758
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- Publication type:
- Article
A Novel Locus and Candidate Gene for Familial Developmental Dyslexia on Chromosome 4q.
- Published in:
- Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie, 2020, v. 48, n. 6, p. 478, doi. 10.1024/1422-4917/a000758
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- Publication type:
- Article
Tissue-Nonspecific Alkaline Phosphatase—A Gatekeeper of Physiological Conditions in Health and a Modulator of Biological Environments in Disease.
- Published in:
- Biomolecules (2218-273X), 2020, v. 10, n. 12, p. 1648, doi. 10.3390/biom10121648
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- Publication type:
- Article
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 726, doi. 10.1038/ejhg.2013.222
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- Publication type:
- Article
Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 743, doi. 10.1038/ejhg.2012.240
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- Publication type:
- Article
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 754, doi. 10.1038/ejhg.2012.6
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- Publication type:
- Article
Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.
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- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 705, doi. 10.1038/ejhg.2011.264
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- Publication type:
- Article
Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.
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- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1310, doi. 10.1038/ejhg.2010.116
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- Publication type:
- Article
Ulnar–mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.
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- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1274, doi. 10.1038/sj.ejhg.5201696
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- Publication type:
- Article
ECM alterations in Fndc3a (Fibronectin Domain Containing Protein 3A) deficient zebrafish cause temporal fin development and regeneration defects.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-50055-w
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- Publication type:
- Article
Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS‐DMR) in 11p15.5.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 4, p. 418, doi. 10.1111/cge.13820
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- Publication type:
- Article
Genetic variants of unknown significance in alpha‐galactosidase A: Cellular delineation from Fabry disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 805, doi. 10.1002/jimd.12743
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- Publication type:
- Article
Investigation of alpl expression and Tnap-activity in zebrafish implies conserved functions during skeletal and neuronal development.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-70152-5
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- Publication type:
- Article
Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3119, doi. 10.1093/hmg/ddv063
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- Publication type:
- Article
Characterization of six Merkel cell polyomavirus‐positive Merkel cell carcinoma cell lines: Integration pattern suggest that large T antigen truncating events occur before or during integration.
- Published in:
- International Journal of Cancer, 2019, v. 145, n. 4, p. 1020, doi. 10.1002/ijc.32280
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- Publication type:
- Article
Novel variants in FERMT3 and RASGRP2-Genetic linkage in Glanzmann-like bleeding disorders.
- Published in:
- 2020
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- Publication type:
- journal article
A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
Negative enrichment by immunomagnetic nanobeads for unbiased characterization of circulating tumor cells from peripheral blood of cancer patients.
- Published in:
- 2011
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- Publication type:
- journal article
Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma.
- Published in:
- Familial Cancer, 2012, v. 11, n. 4, p. 661, doi. 10.1007/s10689-012-9553-3
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- Publication type:
- Article
A BACH2-BCL2L1 fusion gene resulting from a t(6;20)(q15;q11.2) chromosomal translocation in the lymphoma cell line BLUE-1.
- Published in:
- Genes, Chromosomes & Cancer, 2011, v. 50, n. 6, p. 389, doi. 10.1002/gcc.20863
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- Publication type:
- Article
Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia-derived childhood acute myeloid leukemia with biallelic FANCD1/ BRCA2 disruption.
- Published in:
- Genes, Chromosomes & Cancer, 2007, v. 46, n. 4, p. 359, doi. 10.1002/gcc.20417
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- Publication type:
- Article
Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia.
- Published in:
- Mammalian Genome, 2016, v. 27, n. 3/4, p. 111, doi. 10.1007/s00335-016-9619-x
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- Publication type:
- Article
Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2566, doi. 10.1002/ajmg.a.34218
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- Publication type:
- Article
Molecular cytogenetic characterisation of an interstitial deletion 12p detected by prenatal diagnosis.
- Published in:
- Prenatal Diagnosis, 2007, v. 27, n. 5, p. 475, doi. 10.1002/pd.1703
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- Publication type:
- Article
Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype.
- Published in:
- Human Mutation, 2019, v. 40, n. 8, p. 1101, doi. 10.1002/humu.23757
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- Publication type:
- Article
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. E1587, doi. 10.1002/humu.21298
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- Publication type:
- Article
On the traces of tcf12: Investigation of the gene expression pattern during development and cranial suture patterning in zebrafish (Danio rerio).
- Published in:
- PLoS ONE, 2019, v. 14, n. 6, p. 1, doi. 10.1371/journal.pone.0218286
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- Publication type:
- Article
HNF1B Abnormality (Mature-Onset Diabetes of the Young 5) in Children and Adolescents.
- Published in:
- Diabetes Care, 2008, v. 31, n. 11, p. e83, doi. 10.2337/dc08-0920
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- Publication type:
- Article
Distinct Secreted Frizzled Receptor Protein 1 Staining Pattern in Patients With Hyperplastic Polyposis Coli Syndrome.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2004, v. 128, n. 9, p. 967, doi. 10.5858/2004-128-967-dsfrps
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- Publication type:
- Article
Atypical 22q11.2 Microduplication with "Typical" Signs and Overgrowth.
- Published in:
- Cytogenetic & Genome Research, 2020, v. 160, n. 11/12, p. 659, doi. 10.1159/000512486
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- Publication type:
- Article