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Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-53553-2
- By:
- Publication type:
- Article
Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 416, doi. 10.1186/s13023-014-0209-2
- By:
- Publication type:
- Article
Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-26
- By:
- Publication type:
- Article
Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Compositional Biases and Polyalanine Runs in Humans.
- Published in:
- Genetics, 2003, v. 165, n. 3, p. 1613, doi. 10.1093/genetics/165.3.1613
- By:
- Publication type:
- Article
Blepharophimosis-ptosis-epicanthus inversus syndrome.
- Published in:
- Pediatrics International, 2011, v. 53, n. 3, p. 390, doi. 10.1111/j.1442-200X.2010.03223.x
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- Publication type:
- Article
The transcription factor FOXL2 in ovarian function and dysfunction.
- Published in:
- Folia Histochemica et Cytobiologica, 2009, v. 47, n. 5, p. S43, doi. 10.2478/v10042-009-0062-7
- By:
- Publication type:
- Article
GATA2 deficiency and haematopoietic stem cell transplantation: challenges for the clinical practitioner.
- Published in:
- British Journal of Haematology, 2020, v. 188, n. 5, p. 768, doi. 10.1111/bjh.16247
- By:
- Publication type:
- Article
Cloning and Characterization of Human WDR10, a Novel Gene Located at 3q21 Encoding a WD-Repeat Protein That Is Highly Expressed in Pituitary and Testis.
- Published in:
- DNA & Cell Biology, 2001, v. 20, n. 1, p. 41, doi. 10.1089/10445490150504684
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- Publication type:
- Article
Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function.
- Published in:
- Documenta Ophthalmologica, 2012, v. 125, n. 2, p. 161, doi. 10.1007/s10633-012-9337-y
- By:
- Publication type:
- Article
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.
- Published in:
- Scientific Reports, 2016, p. 28253, doi. 10.1038/srep28253
- By:
- Publication type:
- Article
Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7.
- Published in:
- Scientific Reports, 2016, p. 21307, doi. 10.1038/srep21307
- By:
- Publication type:
- Article
Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape.
- Published in:
- Scientific Reports, 2015, v. 5, n. 1, p. 17667, doi. 10.1038/srep17667
- By:
- Publication type:
- Article
A CARD9 Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation.
- Published in:
- Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.02366
- By:
- Publication type:
- Article
Evolutionary origin of Hoxc13-dependent skin appendages in amphibians.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-46373-x
- By:
- Publication type:
- Article
Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45381-1
- By:
- Publication type:
- Article
Functional Exploration of the Adult Ovarian Granulosa Cell Tumor-Associated Somatic FOXL2 Mutation p.Cys134Trp (c.402C>G).
- Published in:
- PLoS ONE, 2010, v. 5, n. 1, p. 1, doi. 10.1371/journal.pone.0008789
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- Publication type:
- Article
Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 6, p. 3010, doi. 10.1210/jc.2009-2218
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- Publication type:
- Article
De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.
- Published in:
- Human Genetics, 2014, v. 133, n. 11, p. 1359, doi. 10.1007/s00439-014-1469-6
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- Publication type:
- Article
Identification of copy number variants associated with BPES-like phenotypes.
- Published in:
- Human Genetics, 2008, v. 124, n. 5, p. 489, doi. 10.1007/s00439-008-0574-9
- By:
- Publication type:
- Article
A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction.
- Published in:
- Human Genetics, 2007, v. 121, n. 1, p. 107, doi. 10.1007/s00439-006-0276-0
- By:
- Publication type:
- Article
The Role of MCM9 in the Etiology of Sertoli Cell-Only Syndrome and Premature Ovarian Insufficiency.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 3, p. 990, doi. 10.3390/jcm12030990
- By:
- Publication type:
- Article
Structural and numerical changes of chromosome X in patients with esophageal atresia.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1077, doi. 10.1038/ejhg.2013.295
- By:
- Publication type:
- Article
Clinical utility gene card for: Axenfeld-Rieger syndrome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 1, doi. 10.1038/ejhg.2010.163
- By:
- Publication type:
- Article
FOXL2 mutations in Indian families with blepharophimosis--ptosis--epicanthus inversus syndrome.
- Published in:
- Journal of Genetics, 2007, v. 86, n. 2, p. 165, doi. 10.1007/s12041-007-0021-z
- By:
- Publication type:
- Article
Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant.
- Published in:
- European Journal of Endocrinology, 2024, v. 191, n. 2, p. 144, doi. 10.1093/ejendo/lvae090
- By:
- Publication type:
- Article
Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study.
- Published in:
- European Journal of Endocrinology, 2024, v. 190, n. 1, p. 34, doi. 10.1093/ejendo/lvad174
- By:
- Publication type:
- Article
Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis.
- Published in:
- Human Reproduction, 2024, v. 39, n. 10, p. 2353, doi. 10.1093/humrep/deae195
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- Publication type:
- Article
Ethical values supporting the disclosure of incidental and secondary findings in clinical genomic testing: a qualitative study.
- Published in:
- 2020
- By:
- Publication type:
- journal article
A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1).
- Published in:
- Molecular Vision, 2021, v. 27, p. 518
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- Publication type:
- Article
Mother and daughter became father and son: a case report.
- Published in:
- Asian Journal of Andrology, 2015, v. 17, n. 5, p. 855, doi. 10.4103/1008-682X.145430
- By:
- Publication type:
- Article
GTF3A mutations predispose to herpes simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand RNA5SP141.
- Published in:
- Science Immunology, 2022, v. 7, n. 77, p. 1, doi. 10.1126/sciimmunol.abq4531
- By:
- Publication type:
- Article
A Novel Non-Coding Variant in DCLRE1C Results in Deregulated Splicing and Induces SCID Through the Generation of a Truncated ARTEMIS Protein That Fails to Support V(D)J Recombination and DNA Damage Repair.
- Published in:
- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.674226
- By:
- Publication type:
- Article
Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci.
- Published in:
- Genome Biology, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s13059-024-03250-6
- By:
- Publication type:
- Article
In memory of Ludwine Messiaen, Ph.D. (1956–2024).
- Published in:
- 2024
- By:
- Publication type:
- Obituary
Autozygome‐guided exome‐first study in a consanguineous cohort with early‐onset retinal disease uncovers an isolated RIMS2 phenotype and a retina‐enriched RIMS2 isoform.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 2, p. 127, doi. 10.1111/cge.14517
- By:
- Publication type:
- Article
HRAS‐related epidermal nevus syndromes: Expansion of the spectrum with first branchial arch defects.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 6, p. 709, doi. 10.1111/cge.14323
- By:
- Publication type:
- Article
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 3, p. 426, doi. 10.1111/cge.13673
- By:
- Publication type:
- Article
Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation.
- Published in:
- Acta Neurologica Belgica, 2021, v. 121, n. 1, p. 23, doi. 10.1007/s13760-020-01363-w
- By:
- Publication type:
- Article
Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement.
- Published in:
- Journal of Clinical Immunology, 2022, v. 42, n. 5, p. 962, doi. 10.1007/s10875-022-01209-5
- By:
- Publication type:
- Article
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Colour Vision in Stargardt Disease.
- Published in:
- Ophthalmic Research, 2015, v. 54, n. 4, p. 181, doi. 10.1159/000438906
- By:
- Publication type:
- Article
FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report.
- Published in:
- Human Reproduction, 2010, v. 25, n. 1, p. 235, doi. 10.1093/humrep/dep355
- By:
- Publication type:
- Article
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 1, p. 14, doi. 10.1002/mgg3.109
- By:
- Publication type:
- Article
A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-95258-2
- By:
- Publication type:
- Article
Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-020-80400-3
- By:
- Publication type:
- Article
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 7, p. 1432, doi. 10.1093/hmg/dds560
- By:
- Publication type:
- Article
FOXL2 Impairment in Human Disease.
- Published in:
- Hormone Research in Paediatrics, 2012, v. 77, n. 1, p. 2, doi. 10.1159/000335236
- By:
- Publication type:
- Article
Rieger syndrome is not associated with PAX6 deletion: a correction to Acta Ophthalmol Scand 2001: 79: 201–203.
- Published in:
- 2009
- By:
- Publication type:
- Letter