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The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 ( RIN2).
- Published in:
- Human Genetics, 2010, v. 128, n. 1, p. 79, doi. 10.1007/s00439-010-0829-0
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- Publication type:
- Article
Phenotypic variability at the TGF-β1 locus in Camurati-Engelmann disease.
- Published in:
- Human Genetics, 2001, v. 109, n. 6, p. 653, doi. 10.1007/s00439-001-0644-8
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- Publication type:
- Article
Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes.
- Published in:
- Human Genetics, 2001, v. 109, n. 3, p. 286, doi. 10.1007/s004390100585
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- Publication type:
- Article
DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype.
- Published in:
- Pediatric Allergy & Immunology, 2017, v. 28, n. 3, p. 298, doi. 10.1111/pai.12694
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- Publication type:
- Article
A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 1, p. 2, doi. 10.1111/j.1399-0004.1996.tb04315.x
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- Publication type:
- Article
Metaphyseal acroscyphodysplasia.
- Published in:
- Clinical Genetics, 1991, v. 39, n. 5, p. 362, doi. 10.1111/j.1399-0004.1991.tb03043.x
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- Publication type:
- Article
Microcephalic osteodysplastic dwarfism (Type ll-like) in siblings.
- Published in:
- Clinical Genetics, 1987, v. 32, n. 2, p. 88, doi. 10.1111/j.1399-0004.1987.tb03331.x
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- Publication type:
- Article
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
- Published in:
- 2000
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- Publication type:
- journal article
Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.
- Published in:
- 2011
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- Publication type:
- Report
Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).
- Published in:
- 2003
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- Publication type:
- journal article
Cardiac anomalies associated with congenital absence of the portal vein.
- Published in:
- Cardiology in the Young, 1999, v. 9, n. 5, p. 522, doi. 10.1017/S1047951100005485
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- Publication type:
- Article
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 1, p. 10, doi. 10.1111/cge.13746
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- Publication type:
- Article
LEF1 haploinsufficiency causes ectodermal dysplasia.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 4, p. 595, doi. 10.1111/cge.13714
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- Publication type:
- Article
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 4, p. 567, doi. 10.1111/cge.13709
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- Publication type:
- Article
Nosology of fetal hypokinesia sequence based on CNS abnormalities: is there an Aase-Smith syndrome?
- Published in:
- Clinical Genetics, 1996, v. 50, n. 4, p. 251, doi. 10.1111/j.1399-0004.1996.tb02638.x
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- Publication type:
- Article
Together4RD position statement on collaboration between European reference networks and industry.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02853-9
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- Publication type:
- Article
Developmental Phenotype of the Rare Case of DJ Caused by a Unique ADNP Gene De Novo Mutation.
- Published in:
- 2019
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- Publication type:
- Editorial
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.
- Published in:
- Human Mutation, 2021, v. 42, n. 7, p. 848, doi. 10.1002/humu.24208
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- Publication type:
- Article
Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways.
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- Human Mutation, 2020, v. 41, n. 2, p. 512, doi. 10.1002/humu.23948
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- Publication type:
- Article
Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification.
- Published in:
- Journal of Autism & Developmental Disorders, 2005, v. 35, n. 1, p. 103, doi. 10.1007/s10803-004-1038-2
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- Publication type:
- Article
Clinical utility gene card for: CHARGE syndrome - update 2015.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1, doi. 10.1038/ejhg.2015.15
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- Publication type:
- Article
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 292, doi. 10.1038/ejhg.2014.95
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- Publication type:
- Article
Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability.
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- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 52, doi. 10.1038/ejhg.2013.98
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- Publication type:
- Article
Clinical utility gene card for: Rothmund-Thomson syndrome.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 1, doi. 10.1038/ejhg.2012.260
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- Publication type:
- Article
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 594, doi. 10.1038/ejhg.2012.32
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- Publication type:
- Article
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 540, doi. 10.1038/ejhg.2011.244
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- Publication type:
- Article
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 527, doi. 10.1038/ejhg.2011.233
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- Publication type:
- Article
Clinical utility gene card for: CHARGE syndrome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 1, doi. 10.1038/ejhg.2011.45
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- Publication type:
- Article
Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia.
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- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 602, doi. 10.1038/ejhg.2010.225
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- Publication type:
- Article
Clinical utility gene card for: WAGR syndrome.
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- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 1, doi. 10.1038/ejhg.2010.220
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- Publication type:
- Article
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.
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- European Journal of Human Genetics, 2009, v. 17, n. 10, p. 1216, doi. 10.1038/ejhg.2009.44
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- Publication type:
- Article
The mutation spectrum in RECQL4 diseases.
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- European Journal of Human Genetics, 2009, v. 17, n. 2, p. 151, doi. 10.1038/ejhg.2008.154
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- Publication type:
- Article
Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia.
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- European Journal of Human Genetics, 2008, v. 16, n. 6, p. 680, doi. 10.1038/sj.ejhg.5201977
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- Publication type:
- Article
CHARGE syndrome: an update.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 4, p. 389, doi. 10.1038/sj.ejhg.5201778
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- Publication type:
- Article
A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region.
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- European Journal of Human Genetics, 2006, v. 14, n. 8, p. 971, doi. 10.1038/sj.ejhg.5201635
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- Publication type:
- Article
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 690, doi. 10.1038/sj.ejhg.5201383
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- Publication type:
- Article
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 607, doi. 10.1038/sj.ejhg.5201372
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- Publication type:
- Article
Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 409, doi. 10.1038/sj.ejhg.5201358
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- Publication type:
- Article
CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 6, p. 452, doi. 10.1038/sj.ejhg.5200984
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- Publication type:
- Article
Major decrease in the incidence of trisomy 21 at birth in south Belgium: mass impact of triple test?
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 1, p. 1, doi. 10.1038/sj.ejhg.5200575
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- Publication type:
- Article
Expanding the phenotype of GTF2E2‐associated trichothiodystrophy.
- Published in:
- Journal of the European Academy of Dermatology & Venereology, 2024, v. 38, n. 3, p. e222, doi. 10.1111/jdv.19545
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- Publication type:
- Article
A De Novo Mutation in an Already Mutant Nucleotide of the Thyroid Hormone Receptor β Gene Perpetuates Resistance to Thyroid Hormone.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 3, p. 1760, doi. 10.1210/jc.2004-1488
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- Publication type:
- Article
Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.
- Published in:
- Birth Defects Research, 2022, v. 114, n. 10, p. 499, doi. 10.1002/bdr2.2011
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- Publication type:
- Article
Developmental and epileptic encephalopathy related to a heterozygous variant of the RHOBTB2 gene: A case report from French Guiana.
- Published in:
- 2022
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- Publication type:
- Case Study
Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.
- Published in:
- 2019
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- Publication type:
- letter
Diffuse cortical atrophy in a patient with Turner syndrome and Leber hereditary optic neuropathy.
- Published in:
- Journal of Neurology, 2005, v. 252, n. 2, p. 232, doi. 10.1007/s00415-005-0615-4
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- Publication type:
- Article
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 9, p. 834, doi. 10.1007/s10038-008-0320-0
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- Publication type:
- Article
BBS8 is rarely mutated in a cohort of 128 Bardet–Biedl syndrome families.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 1, p. 81, doi. 10.1007/s10038-005-0320-2
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- Publication type:
- Article
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.
- Published in:
- Molecular Autism, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13229-015-0015-2
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- Publication type:
- Article
Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome.
- Published in:
- Molecular Autism, 2013, v. 4, n. 1, p. 1, doi. 10.1186/2040-2392-4-29
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- Publication type:
- Article