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Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes.
- Published in:
- Human Genetics, 2006, v. 119, n. 1/2, p. 1, doi. 10.1007/s00439-005-0097-6
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- Publication type:
- Article
Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 131, doi. 10.1007/s00439-002-0862-8
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- Publication type:
- Article
Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5763, doi. 10.1093/hmg/ddu290
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- Publication type:
- Article
New insights into genotype-phenotype correlation for GLI3 mutations.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 92, doi. 10.1038/ejhg.2014.62
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- Publication type:
- Article
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 855, doi. 10.1038/ejhg.2012.269
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- Publication type:
- Article
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 892, doi. 10.1038/ejhg.2013.74
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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
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
- Published in:
- 2018
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- Publication type:
- journal article
Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 3, p. 618, doi. 10.3390/ijms18030618
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- Publication type:
- Article
Performance of diagnostic ultrasound to identify causes of hydramnios.
- Published in:
- Prenatal Diagnosis, 2021, v. 41, n. 1, p. 111, doi. 10.1002/pd.5825
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- Publication type:
- Article
Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases.
- Published in:
- Acta Neuropathologica, 2009, v. 117, n. 2, p. 185, doi. 10.1007/s00401-008-0469-9
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- Publication type:
- Article
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.
- Published in:
- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01254-y
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- Publication type:
- Article
Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 1, doi. 10.1038/ejhg.2011.158
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- Publication type:
- Article
Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 227, doi. 10.1038/ejhg.2009.162
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- Publication type:
- Article
Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 11, p. 699, doi. 10.1038/sj.ejhg.5200879
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- Publication type:
- Article
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.
- Published in:
- Nature Genetics, 2014, v. 46, n. 8, p. 905, doi. 10.1038/ng.3031
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- Publication type:
- Article
Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report.
- Published in:
- Pediatric Dermatology, 2022, v. 39, n. 3, p. 434, doi. 10.1111/pde.14969
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- Publication type:
- Article
Molecular and Clinical Characterization of 25 Individuals With Exonic Deletions of NRXN1 and Comprehensive Review of the Literature.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2013, v. 162B, n. 4, p. 388, doi. 10.1002/ajmg.b.32148
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- Publication type:
- Article
IQSEC2‐related encephalopathy in males due to missense variants in the pleckstrin homology domain.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 1, p. 72, doi. 10.1111/cge.14136
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- Publication type:
- Article
Skraban‐Deardorff syndrome: Six new cases of WDR26‐related disease and expansion of the clinical phenotype.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 5, p. 732, doi. 10.1111/cge.13933
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- Publication type:
- Article
GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer‐Rokitansky‐Kuster‐Hauser syndrome.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 2, p. 126, doi. 10.1111/cge.13769
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- Publication type:
- Article
Congenital diaphragmatic hernia: prenatal diagnosis permits immediate intensive care with high survival rate in isolated cases. A population-based study.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 7, p. 487, doi. 10.1002/pd.909
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- Publication type:
- Article
Perinatal management and outcome of prenatally diagnosed congenital diaphragmatic hernia: a 1995-2000 series in Rennes University Hospital.
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- Prenatal Diagnosis, 2002, v. 22, n. 11, p. 988, doi. 10.1002/pd.454
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- Publication type:
- Article
Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders.
- Published in:
- Human Genetics, 2019, v. 138, n. 4, p. 363, doi. 10.1007/s00439-019-01993-y
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- Publication type:
- Article
CNS involvement in OFD1 syndrome: A clinical, molecular, and neuroimaging study.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-74
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- Publication type:
- Article
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
- Published in:
- 2014
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- Publication type:
- journal article
Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci.
- Published in:
- 2011
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- Publication type:
- journal article
Holoprosencephaly.
- Published in:
- Orphanet Journal of Rare Diseases, 2007, v. 2, p. 8, doi. 10.1186/1750-1172-2-8
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- Publication type:
- Article
Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: An updated map of candidate loci.
- Published in:
- Human Mutation, 2009, v. 30, n. 8, p. 1175, doi. 10.1002/humu.21016
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- Publication type:
- Article
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
- Published in:
- Human Mutation, 2009, v. 30, n. 4, p. 669, doi. 10.1002/humu.20935
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- Publication type:
- Article
MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly.
- Published in:
- Human Mutation, 2007, v. 28, n. 12, p. 1189, doi. 10.1002/humu.20594
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- Publication type:
- Article
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A ( TUBA1A).
- Published in:
- Human Mutation, 2007, v. 28, n. 11, p. 1055, doi. 10.1002/humu.20572
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- Publication type:
- Article
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.
- Published in:
- Human Mutation, 2004, v. 24, n. 1, p. 43, doi. 10.1002/humu.20056
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- Publication type:
- Article
Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 9, p. 2304, doi. 10.1093/brain/awn155
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- Publication type:
- Article
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.
- Published in:
- Human Mutation, 2016, v. 37, n. 12, p. 1329, doi. 10.1002/humu.23038
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- Publication type:
- Article
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. E1506, doi. 10.1002/humu.21271
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- Publication type:
- Article
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63559
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- Publication type:
- Article
Growth charts in DYRK1A syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 9, doi. 10.1002/ajmg.a.63412
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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
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 116, doi. 10.1002/ajmg.a.37384
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- Publication type:
- Article
Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1252, doi. 10.1002/ajmg.a.36932
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- Publication type:
- Article
Inversion duplication deletions involving the long arm of chromosome 13: Phenotypic description of additional three fetuses and genotype-phenotype correlation.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2504, doi. 10.1002/ajmg.a.36658
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- Publication type:
- Article
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1633, doi. 10.1002/ajmg.a.35423
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- Publication type:
- Article
The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina) -- phenotypic manifestations and genetic approaches.
- Published in:
- Journal of Negative Results in Biomedicine, 2006, v. 5, p. 1, doi. 10.1186/1477-5751-5-1
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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
- By:
- Publication type:
- journal article