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Phenotypic spectrum and tumor risk in Simpson‐Golabi‐Behmel syndrome: Case series and comprehensive literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63840
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- Publication type:
- Article
Non‐immune hydrops fetalis is associated with bi‐allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 6, p. 713, doi. 10.1111/cge.14601
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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
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- 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
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- Publication type:
- Article
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
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- 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
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- Publication type:
- Article
Simpson-Golabi-Behmel syndrome types I and II.
- Published in:
- 2014
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- Publication type:
- journal article
2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report.
- Published in:
- BMC Pediatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12887-024-04843-7
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- Publication type:
- Article
Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 11, p. 3556, doi. 10.3390/jcm9113556
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- Publication type:
- Article
Prenatal ultrasound findings in Koolen‐de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1649
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- Publication type:
- Article
Co‐occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1321
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- Publication type:
- Article
Glycosylated human oxyhaemoglobin activates nuclear factor-kappaB and activator protein-1 in cultured human aortic smooth muscle.
- Published in:
- 2003
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- 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
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- 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
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- 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
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- Publication type:
- Article
A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 100, doi. 10.1002/ajmg.a.62994
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- Publication type:
- Article
International meeting on Wolf‐Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 257, doi. 10.1002/ajmg.a.61406
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- Publication type:
- Article
Skin picking disorder in 97 Italian and Spanish Cri du chat patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1525, doi. 10.1002/ajmg.a.61259
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- Publication type:
- Article
Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2740, doi. 10.1002/ajmg.a.37852
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- Publication type:
- Article
Cover Image, Volume 170A, Number 4, April 2016.
- Published in:
- 2016
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- Publication type:
- Other
Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 986, doi. 10.1002/ajmg.a.37532
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- Publication type:
- Article
Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1018, doi. 10.1002/ajmg.a.36879
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- Publication type:
- Article
Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2908, doi. 10.1002/ajmg.a.36716
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- Publication type:
- Article
Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1950, doi. 10.1002/ajmg.a.35960
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- Publication type:
- Article
Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2963, doi. 10.1002/ajmg.a.35595
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- 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
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- Publication type:
- Case Study
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
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- Publication type:
- Article
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.
- Published in:
- Clinical Epigenetics, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13148-022-01358-9
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- 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
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- 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
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- Publication type:
- Article
Is Nuchal Translucency of 3.0–3.4 mm an Indication for cfDNA Testing or Microarray? – A Multicenter Retrospective Clinical Cohort Study.
- Published in:
- Fetal Diagnosis & Therapy, 2024, v. 51, n. 5, p. 453, doi. 10.1159/000539463
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- 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
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- 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
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- 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
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- Publication type:
- Article
Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants.
- Published in:
- Cancers, 2022, v. 14, n. 15, p. 3807, doi. 10.3390/cancers14153807
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- 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
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- 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
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- 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
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- 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
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- Publication type:
- Article
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
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
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
Identification of copy‐number variants in patients with overgrowth disorders.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 5, p. 614, doi. 10.1111/cge.14596
- 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
- By:
- Publication type:
- Article