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Prenatal Diagnosis of Acromelic Frontonasal Dysostosis.
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- Molecular Syndromology, 2021, v. 12, n. 1, p. 41, doi. 10.1159/000512304
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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.
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- Molecular Syndromology, 2017, v. 8, n. 1, p. 30, doi. 10.1159/000452609
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- Publication type:
- Article
Rapid detection of polymorphisms in exons 10, 11 and 12 of the low density lipoprotein receptor gene (LDLR) and their use in a clinical genetic diagnostic setting.
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- Clinical Genetics, 1999, v. 55, n. 3, p. 212, doi. 10.1034/j.1399-0004.1999.550311.x
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- Publication type:
- Article
Reply to the article entitled 'Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report' by Galbiati et al., Clin Chem Lab Med 2014;52(4):505-9
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- Clinical Chemistry & Laboratory Medicine, 2014, v. 52, n. 7, p. e127, doi. 10.1515/cclm-2013-1076
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- Publication type:
- Article
Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1‐related.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63469
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- Publication type:
- Article
Clinical and radiological heterogeneity for the rare FGFR3 variant, p.Ser344Cys, description of a third patient.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2240, doi. 10.1002/ajmg.a.63227
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- Publication type:
- Article
Precocious puberty and anal stenosis in an African patient with Rothmund–Thomson syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 280, doi. 10.1002/ajmg.a.62980
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- Publication type:
- Article
Novel FGF9 variant contributes to multiple synostoses syndrome 3.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2162, doi. 10.1002/ajmg.a.62729
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- Publication type:
- Article
Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 856, doi. 10.1002/ajmg.a.62010
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- Publication type:
- Article
Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2715, doi. 10.1002/ajmg.a.61817
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- Publication type:
- Article
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2068, doi. 10.1002/ajmg.a.61735
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- Publication type:
- Article
First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 628, doi. 10.1002/ajmg.a.61480
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- Publication type:
- Article
Loss of function BMP4 mutation supports the implication of the BMP/TGF‐β pathway in the etiology of combined pituitary hormone deficiency.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1591, doi. 10.1002/ajmg.a.61201
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- Publication type:
- Article
Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1595, doi. 10.1002/ajmg.a.37619
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- Publication type:
- Article
Two Novel POC1A Mutations in the Primordial Dwarfism, SOFT Syndrome: Clinical Homogeneity but Also Unreported Malformations.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 210, doi. 10.1002/ajmg.a.37393
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- Publication type:
- Article
Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization.
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- 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
Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 902, doi. 10.1002/ajmg.a.36811
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- Publication type:
- Article
Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3050, doi. 10.1002/ajmg.a.34199
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- Publication type:
- Article
IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.
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- 2017
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- Publication type:
- journal article
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.
- Published in:
- 2016
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- Publication type:
- journal article
The use of a highly informative CA repeat polymorphism within the abetalipoproteinaemia locus (4q22-24).
- Published in:
- Prenatal Diagnosis, 1997, v. 17, n. 12, p. 1181, doi. 10.1002/(SICI)1097-0223(199712)17:12<1181::AID-PD205>3.0.CO;2-A
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- 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
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- Publication type:
- Article
<i>NPPB</i> and <i>ACAN</i>, Two Novel SHOX2 Transcription Targets Implicated in Skeletal Development.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0083104
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- Publication type:
- Article
Primary Acid-Labile Subunit Deficiency due to Recessive IGFALS Mutations Results in Postnatal Growth Deficit Associated with Low Circulating Insulin Growth Factor (IGF)-I, IGF Binding Protein-3 Levels, and Hyperinsulinemia.
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- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 5, p. 1616, doi. 10.1210/jc.2007-2678
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- Publication type:
- Article
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
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- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 907, doi. 10.1038/ejhg.2014.205
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- Publication type:
- Article
Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD).
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- European Journal of Human Genetics, 2012, v. 20, n. 8, p. e1, doi. 10.1038/ejhg.2012.64
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- Publication type:
- Article
Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature.
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- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 125, doi. 10.1038/ejhg.2011.210
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- Publication type:
- Article
Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.
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- European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1218, doi. 10.1038/ejhg.2011.128
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- Publication type:
- Article
A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom.
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- European Journal of Human Genetics, 2001, v. 9, n. 4, p. 244, doi. 10.1038/sj.ejhg.5200633
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- Publication type:
- Article
Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2.
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- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 1, p. 111, doi. 10.1515/jpem-2016-0280
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- Publication type:
- Article
Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome.
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- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 3/4, p. 305, doi. 10.1515/jpem-2013-0176
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- Publication type:
- Article
Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations.
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- Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 5/6, p. 395, doi. 10.1515/jpem.2011.024
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- Publication type:
- Article
Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations.
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- 2011
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- Publication type:
- Case Study
Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects.
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- European Journal of Endocrinology, 2024, v. 191, n. 1, p. 38, doi. 10.1093/ejendo/lvae072
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- Publication type:
- Article
Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02652-2
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- Publication type:
- Article
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases.
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- Clinical Genetics, 2023, v. 104, n. 1, p. 100, doi. 10.1111/cge.14351
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- Publication type:
- Article
Identification of the third FGF9 variant in a girl with multiple synostosis–comparison of the genotype:phenotype of FGF9 variants in humans and mice.
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- Clinical Genetics, 2021, v. 99, n. 2, p. 309, doi. 10.1111/cge.13876
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- Publication type:
- Article
Achondroplasia with 47, xxy karyotype: a case report of the neonatal diagnosis of an extremely unusual association.
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- BMC Pediatrics, 2012, v. 12, n. 1, p. 88, doi. 10.1186/1471-2431-12-88
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- Publication type:
- Article
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.
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- Human Molecular Genetics, 2020, v. 29, n. 14, p. 2435, doi. 10.1093/hmg/ddaa120
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- Publication type:
- Article
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.
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- Human Molecular Genetics, 2015, v. 24, n. 14, p. 4126, doi. 10.1093/hmg/ddv152
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- Publication type:
- Article
MYH9 spectrum of autosomal-dominant giant platelet syndromes: Unexpected association with fibulin-1 variant-D inactivation.
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- American Journal of Hematology, 2003, v. 74, n. 4, p. 254, doi. 10.1002/ajh.10425
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- Publication type:
- Article
Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.965476
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- Publication type:
- Article
FGF9 mutation causes craniosynostosis along with multiple synostoses.
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- Human Mutation, 2017, v. 38, n. 11, p. 1471, doi. 10.1002/humu.23292
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- Publication type:
- Article
PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands.
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- Human Mutation, 2006, v. 27, n. 10, p. 1062, doi. 10.1002/humu.9456
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- Publication type:
- Article
Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene.
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- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-32565-1
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- Publication type:
- Article
New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly.
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- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1165780
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- Publication type:
- Article
New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1165780
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- Publication type:
- Article
SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 8, p. 1547, doi. 10.1093/hmg/ddr032
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- Publication type:
- Article
Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation.
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- Human Molecular Genetics, 2003, v. 12, n. 23, p. 3161, doi. 10.1093/hmg/ddg340
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- Publication type:
- Article
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
- Published in:
- Clinical Endocrinology, 2018, v. 88, n. 6, p. 820, doi. 10.1111/cen.13581
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- Publication type:
- Article