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Functional Vision Analysis in Patients With CHARGE Syndrome.
- Published in:
- Journal of Pediatric Ophthalmology & Strabismus, 2020, v. 57, n. 2, p. 120, doi. 10.3928/01913913-20200207-02
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- Publication type:
- Article
Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies.
- Published in:
- BMC Medical Informatics & Decision Making, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12911-024-02538-8
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- Publication type:
- Article
Inappropriate p53 activation during development induces features of CHARGE syndrome.
- Published in:
- Nature, 2014, v. 514, n. 7521, p. 228, doi. 10.1038/nature13585
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- Publication type:
- Article
Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?
- Published in:
- Clinical Genetics, 2020, v. 98, n. 6, p. 620, doi. 10.1111/cge.13840
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- Publication type:
- Article
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 3, p. 420, doi. 10.1111/cge.13493
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- Publication type:
- Article
Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy.
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 13, p. 1201, doi. 10.1002/pd.1588
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- Publication type:
- Article
Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 4, p. 298, doi. 10.1002/pd.865
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- Publication type:
- Article
Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach.
- Published in:
- Prenatal Diagnosis, 2003, v. 23, n. 11, p. 884, doi. 10.1002/pd.713
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- Publication type:
- Article
EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion‐Almeida type.
- Published in:
- Human Mutation, 2020, v. 41, n. 8, p. 1372, doi. 10.1002/humu.24027
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- Publication type:
- Article
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.
- Published in:
- Human Mutation, 2020, v. 41, n. 7, p. 1220, doi. 10.1002/humu.24021
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- Publication type:
- Article
Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 Observations.
- Published in:
- Birth Defects Research, 2017, v. 109, n. 19, p. 1586, doi. 10.1002/bdr2.1093
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- Publication type:
- Article
A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report.
- Published in:
- 2015
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- Publication type:
- journal article
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 621, doi. 10.1038/ejhg.2014.156
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- Publication type:
- Article
PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism.
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- European Journal of Human Genetics, 2000, v. 8, n. 11, p. 820, doi. 10.1038/sj.ejhg.5200539
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- Publication type:
- Article
PAX8, TITF1, and FOXE1 Gene Expression Patterns during Human Development: New Insights into Human Thyroid Development and Thyroid Dysgenesis- Associated Malformations
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 1, p. 455, doi. 10.1210/jc.2004-1358
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- Publication type:
- Article
Neu Laxova syndrome and megacystis in the first trimester: Broadening the fetal phenotype.
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 13, p. 1666, doi. 10.1002/pd.6463
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- Publication type:
- Article
Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy data.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 5, p. 574, doi. 10.1002/pd.6133
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- Publication type:
- Article
Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism.
- Published in:
- Birth Defects Research, 2024, v. 116, n. 7, p. 1, doi. 10.1002/bdr2.2380
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- Publication type:
- Article
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.
- Published in:
- Birth Defects Research, 2023, v. 115, n. 5, p. 563, doi. 10.1002/bdr2.2141
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- Publication type:
- Article
Prenatal Diagnosis of Primrose Syndrome.
- Published in:
- 2024
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- Publication type:
- Case Study
A clinical and histopathological study of malformations observed in fetuses infected by the Zika virus.
- Published in:
- Brain Pathology, 2019, v. 29, n. 1, p. 114, doi. 10.1111/bpa.12644
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- Publication type:
- Article
Corrigendum: TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human.
- Published in:
- 2022
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- Publication type:
- Correction Notice
TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human.
- Published in:
- Frontiers in Molecular Neuroscience, 2021, v. 14, p. 1, doi. 10.3389/fnmol.2021.757646
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- Publication type:
- Article
DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 1, p. 171, doi. 10.1093/hmg/ddt409
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- Publication type:
- Article
10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France.
- Published in:
- 2021
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- Publication type:
- journal article
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model.
- Published in:
- Nature Medicine, 2012, v. 18, n. 9, p. 1423, doi. 10.1038/nm.2860
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- Publication type:
- Article
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.
- Published in:
- Nature Genetics, 2007, v. 39, n. 4, p. 454, doi. 10.1038/ng1993
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- Publication type:
- Article
Segregation at three loci explains familial and population risk in Hirschsprung disease.
- Published in:
- Nature Genetics, 2002, v. 31, n. 1, p. 89, doi. 10.1038/ng868
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- Publication type:
- Article
Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse).
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 23, p. 3173, doi. 10.1093/hmg/ddg339
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- Publication type:
- Article
Expression of the PTEN tumour suppressor protein during human development.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 11, p. 1633, doi. 10.1093/hmg/9.11.1633
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- Publication type:
- Article
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 417, doi. 10.1002/ajmg.c.31591
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- Publication type:
- Article
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
- Published in:
- 2019
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- Publication type:
- journal article
ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.
- Published in:
- 2016
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- Publication type:
- journal article
Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 1, p. e199, doi. 10.1093/brain/awr108
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- Publication type:
- Article
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
- Published in:
- Nature Genetics, 2012, v. 44, n. 2, p. 193, doi. 10.1038/ng.1078
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- Publication type:
- Article
Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. E673, doi. 10.1002/humu.21023
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- Publication type:
- Article
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.
- Published in:
- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01519-8
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- Publication type:
- Article
Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 77, doi. 10.1002/ajmg.a.62989
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- Publication type:
- Article
GGCX‐related congenital combined vitamin K‐dependent clotting factors deficiency‐1: Description of a fetus with chondrodysplasia punctata.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 314, doi. 10.1002/ajmg.a.62503
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- Publication type:
- Article
Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1236, doi. 10.1002/ajmg.a.61520
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- Publication type:
- Article
Mutations in IFT80 cause SRPS Type IV. Report of two families and review.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 639, doi. 10.1002/ajmg.a.61050
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- Publication type:
- Article
Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1610, doi. 10.1002/ajmg.a.38685
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- Publication type:
- Article
Cerebral dysgenesis does not exclude OFD I syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 455, doi. 10.1002/ajmg.a.33812
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- Publication type:
- Article
Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.
- Published in:
- Neurogenetics, 2013, v. 14, n. 3/4, p. 215, doi. 10.1007/s10048-013-0373-x
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- Publication type:
- Article
A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test.
- Published in:
- Cytogenetic & Genome Research, 2016, v. 147, n. 2/3, p. 103, doi. 10.1159/000442904
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- Publication type:
- Article
Fatty acid oxidation in the human fetus: Implications for fetal and adult disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 1, p. 71, doi. 10.1007/s10545-006-0199-x
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- Publication type:
- Article
Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 6, p. 877, doi. 10.1093/hmg/ddy392
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- Publication type:
- Article
Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 15, p. 2689, doi. 10.1093/hmg/ddy179
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- Publication type:
- Article
Investigating genotype‐to‐phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 4, p. 466, doi. 10.1111/cge.14363
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- Publication type:
- Article
Morphological and genetic causes of fetal cardiomyopathies.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 1, p. 63, doi. 10.1111/cge.14333
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- Publication type:
- Article