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A novel and de novo deletion in the <i>OCRL1</i> gene associated with a severe form of Lowe syndrome.
- Published in:
- 2013
- By:
- Publication type:
- Report
Expanding the Evidence of a Semi-Dominant Inheritance in GDF2 Associated with Pulmonary Arterial Hypertension.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 11, p. 3178, doi. 10.3390/cells10113178
- By:
- Publication type:
- Article
Longitudinal Changes in Epigenetic Age Acceleration in Aviremic Human Immunodeficiency Virus-Infected Recipients of Long-term Antiretroviral Treatment.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Haemophilia B, severe childhood obesity and other extra‐haematological features associated with similar 4Mb‐deletions on Xq27: Clinical findings, molecular insights and literature update.
- Published in:
- Haemophilia, 2023, v. 29, n. 3, p. 844, doi. 10.1111/hae.14779
- By:
- Publication type:
- Article
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1615, doi. 10.1038/ejhg.2015.51
- By:
- Publication type:
- Article
Living kidney transplantation between brothers with unrecognized renal amyloidosis as the first manifestation of familial Mediterranean fever: a case report.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 1, p. 30, doi. 10.1159/000452609
- By:
- Publication type:
- Article
NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.
- Published in:
- Genes, 2023, v. 14, n. 11, p. 2091, doi. 10.3390/genes14112091
- By:
- Publication type:
- Article
A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1.
- Published in:
- Genes, 2023, v. 14, n. 10, p. 1878, doi. 10.3390/genes14101878
- By:
- Publication type:
- Article
Cognitive–Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype–Phenotype Correlationships.
- Published in:
- Genes, 2023, v. 14, n. 8, p. 1628, doi. 10.3390/genes14081628
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- Publication type:
- Article
Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.
- Published in:
- Genes, 2023, v. 14, n. 4, p. 820, doi. 10.3390/genes14040820
- By:
- Publication type:
- Article
Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature.
- Published in:
- Genes, 2022, v. 13, n. 5, p. 927, doi. 10.3390/genes13050927
- By:
- Publication type:
- Article
Clinical and Genetic Aspects of Phelan–McDermid Syndrome: An Interdisciplinary Approach to Management.
- Published in:
- Genes, 2022, v. 13, n. 3, p. 504, doi. 10.3390/genes13030504
- By:
- Publication type:
- Article
Rapidly Progressing to ESRD in an Individual with Coexisting ADPKD and Masked Klinefelter and Gitelman Syndromes.
- Published in:
- Genes, 2022, v. 13, n. 3, p. 394, doi. 10.3390/genes13030394
- By:
- Publication type:
- Article
Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review.
- Published in:
- Genes, 2021, v. 12, n. 5, p. 738, doi. 10.3390/genes12050738
- By:
- Publication type:
- Article
Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 416, doi. 10.1038/ejhg.2010.236
- By:
- Publication type:
- Article
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.
- Published in:
- European Journal of Endocrinology, 2021, v. 185, n. 5, p. 691, doi. 10.1530/EJE-21-0557
- By:
- Publication type:
- Article
A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.
- Published in:
- European Journal of Endocrinology, 2019, v. 181, n. 5, p. K43, doi. 10.1530/EJE-19-0563
- By:
- Publication type:
- Article
Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 3, p. 1, doi. 10.1371/journal.pgen.1003358
- By:
- Publication type:
- Article
Reduction of NADPH-Oxidase Activity Ameliorates the Cardiovascular Phenotype in a Mouse Model of Williams-Beuren Syndrome.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 2, p. 1, doi. 10.1371/journal.pgen.1002458
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- Publication type:
- Article
Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.645595
- By:
- Publication type:
- Article
A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.530028
- By:
- Publication type:
- Article
Genetics of inborn errors of immunity: Diagnostic strategies and new approaches to CNV detection.
- Published in:
- European Journal of Clinical Investigation, 2024, v. 54, n. 6, p. 1, doi. 10.1111/eci.14191
- By:
- Publication type:
- Article
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-08548-9
- By:
- Publication type:
- Article
Adult experiences in Beckwith–Wiedemann syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 2, p. 116, doi. 10.1002/ajmg.c.32046
- By:
- Publication type:
- Article
The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disorders.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 2, p. 186, doi. 10.1002/ajmg.c.31916
- By:
- Publication type:
- Article
Lamb–Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 6, p. 637, doi. 10.1111/cge.14423
- By:
- Publication type:
- Article
Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early‐onset and fast cyst progression.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 6, p. 857, doi. 10.1111/cge.13738
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- Publication type:
- Article
Front Cover.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 4, p. i, doi. 10.1111/cge.13733
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- Publication type:
- Article
Molecular characterization of Spanish patients with MECP2 duplication syndrome.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 4, p. 610, doi. 10.1111/cge.13718
- By:
- Publication type:
- Article
Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 3, p. 467, doi. 10.1111/cge.13689
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- Publication type:
- Article
MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 6, p. 726, doi. 10.1111/cge.13504
- By:
- Publication type:
- Article
TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes.
- Published in:
- Familial Cancer, 2017, v. 16, n. 2, p. 243, doi. 10.1007/s10689-016-9935-z
- By:
- Publication type:
- Article
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
- Published in:
- Human Genetics, 2016, v. 135, n. 5, p. 569, doi. 10.1007/s00439-016-1655-9
- By:
- Publication type:
- Article
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis.
- Published in:
- Human Genetics, 2012, v. 131, n. 3, p. 513, doi. 10.1007/s00439-011-1095-5
- By:
- Publication type:
- Article
The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways.
- Published in:
- Scientific Reports, 2017, p. 42937, doi. 10.1038/srep42937
- By:
- Publication type:
- Article
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.652454
- By:
- Publication type:
- Article
Amadori adducts activate nuclear factor-κB-related proinflammatory genes in cultured human peritoneal mesothelial cells.
- Published in:
- British Journal of Pharmacology, 2005, v. 146, n. 2, p. 268, doi. 10.1038/sj.bjp.0706309
- By:
- Publication type:
- Article
Glycosylated human oxyhaemoglobin activates nuclear factor-kappaB and activator protein-1 in cultured human aortic smooth muscle.
- Published in:
- 2003
- By:
- Publication type:
- journal article
Glycosylated human oxyhaemoglobin activates nuclear factor-?B and activator protein-1 in cultured human aortic smooth muscle.
- Published in:
- British Journal of Pharmacology, 2003, v. 140, n. 4, p. 681, doi. 10.1038/sj.bjp.0705483
- By:
- Publication type:
- Article
Simpson-golabi-behmel syndrome types I and II.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0138-0
- By:
- Publication type:
- Article
Simpson-Golabi-Behmel syndrome types I and II.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.
- Published in:
- PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0172363
- By:
- Publication type:
- Article
Molecular characterization of an atypical inv dup del 8q. Proposal of a mechanism of formation.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 915, doi. 10.1002/ajmg.a.33924
- By:
- Publication type:
- Article
Transport of hexoses in yeast. Re-examination of the sugar phosphorylation hypothesis with a new experimental approach.
- Published in:
- Yeast, 1994, v. 10, n. 1, p. 59, doi. 10.1002/yea.320100106
- By:
- Publication type:
- Article
Galactose inhibition of the constitutive transport of hexoses in Saccharomyces cerevisiae.
- Published in:
- Yeast, 1993, v. 9, n. 2, p. 111, doi. 10.1002/yea.320090202
- By:
- Publication type:
- Article
Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/s12881-014-0116-3
- By:
- Publication type:
- Article
Spontaneous remission in a child with an NPHS1-based congenital nephrotic syndrome.
- Published in:
- Clinical Kidney Journal, 2022, v. 15, n. 10, p. 1969, doi. 10.1093/ckj/sfac086
- By:
- Publication type:
- Article
Birth of two healthy girls following preimplantation genetic diagnosis and gestational surrogacy in a rapidly progressive autosomal dominant polycystic kidney disease case using tolvaptan.
- Published in:
- Clinical Kidney Journal, 2021, v. 14, n. 8, p. 1987, doi. 10.1093/ckj/sfab082
- By:
- Publication type:
- Article
Historical and geographical distribution of the founder mutation c.610G>A; p.Ala204Thr in the CLCNKB gene linked to Bartter syndrome type III in Spain.
- Published in:
- Clinical Kidney Journal, 2021, v. 14, n. 8, p. 1990, doi. 10.1093/ckj/sfab083
- By:
- Publication type:
- Article