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DYRK1A interacts with the REST/NRSF-SWI/SNF chromatin remodelling complex to deregulate gene clusters involved in the neuronal phenotypic traits of Down syndrome.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 8, p. 1405, doi. 10.1093/hmg/ddp047
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- Publication type:
- Article
Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1β/MODY5 mutations.
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- Human Molecular Genetics, 2006, v. 15, n. 15, p. 2363, doi. 10.1093/hmg/ddl161
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- Publication type:
- Article
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1010, doi. 10.1038/ejhg.2014.230
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- Publication type:
- Article
New insights into genotype-phenotype correlation for GLI3 mutations.
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- 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
Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy.
- Published in:
- Annals of Neurology, 2015, v. 78, n. 3, p. 387, doi. 10.1002/ana.24446
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- Publication type:
- Article
Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.
- Published in:
- 2016
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- Publication type:
- journal article
Severe X-linked chondrodysplasia punctata in nine new female fetuses.
- Published in:
- Prenatal Diagnosis, 2015, v. 35, n. 7, p. 675, doi. 10.1002/pd.4591
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- Publication type:
- Article
Biochemical analysis of ascites fluid as an aid to etiological diagnosis: a series of 100 cases of nonimmune fetal ascites.
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- Prenatal Diagnosis, 2015, v. 35, n. 3, p. 214, doi. 10.1002/pd.4522
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- Publication type:
- Article
Outcome following prenatal diagnosis of severe bilateral renal hypoplasia.
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- Prenatal Diagnosis, 2013, v. 33, n. 12, p. 1167, doi. 10.1002/pd.4217
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- Publication type:
- Article
Outcome and etiologies of fetal megacystis according to the gestational age at diagnosis.
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- Prenatal Diagnosis, 2013, v. 33, n. 12, p. 1162, doi. 10.1002/pd.4215
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- Publication type:
- Article
Prognosis and outcome of pregnancies exposed to renin-angiotensin system blockers.
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- Prenatal Diagnosis, 2012, v. 32, n. 11, p. 1071, doi. 10.1002/pd.3960
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- Publication type:
- Article
Prenatal phenotype of congenital hyperparathyroidism.
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- Prenatal Diagnosis, 2012, v. 32, n. 9, p. 906, doi. 10.1002/pd.3912
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- Publication type:
- Article
Outcome of prenatally detected bilateral higher urinary tract obstruction or megacystis: sex-related study on a series of 709 cases.
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 7, p. 649, doi. 10.1002/pd.3877
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- Publication type:
- Article
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.
- Published in:
- Acta Neuropathologica, 2013, v. 126, n. 3, p. 427, doi. 10.1007/s00401-013-1146-1
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- Publication type:
- Article
Inner ear lesions in congenital cytomegalovirus infection of human fetuses.
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- Acta Neuropathologica, 2011, v. 122, n. 6, p. 763, doi. 10.1007/s00401-011-0895-y
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- Publication type:
- Article
Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in <bold>EFEMP2</bold>.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 4, p. 190, doi. 10.1159/000489838
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- Publication type:
- Article
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.
- Published in:
- 2005
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- Publication type:
- Letter
A guinea pig model for cytomegalovirus congenital infection: dose-effect and vertical transmission rate.
- Published in:
- Retrovirology, 2008, v. 5, p. 1, doi. 10.1186/1742-4690-5-S1-P1
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- Publication type:
- Article
Insulin-like 4 (INSL4) gene expression in human embryonic and trophoblastic tissues.
- Published in:
- Molecular Reproduction & Development, 1998, v. 51, n. 2, p. 123, doi. 10.1002/(SICI)1098-2795(199810)51:2<123::AID-MRD1>3.0.CO;2-S
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- Publication type:
- Article
Correlation between colored Doppler echography of fetal thyroid goiters and histologic study.
- Published in:
- 2010
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- Publication type:
- journal article
Etiology and outcome of fetal echogenic bowel. Ten years of experience.
- Published in:
- 2003
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- Publication type:
- journal article
Etiology and Outcome of Fetal Echogenic Bowel.
- Published in:
- Fetal Diagnosis & Therapy, 2003, v. 18, n. 4, p. 240, doi. 10.1159/000070803
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- Publication type:
- Article
Spatial and temporal localization during embryonic and fetal human development of the transcription factor SIM2 in brain regions altered in Down syndrome
- Published in:
- International Journal of Developmental Neuroscience, 2005, v. 23, n. 5, p. 475, doi. 10.1016/j.ijdevneu.2005.05.004
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- Publication type:
- Article
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
- Published in:
- Journal of Clinical Immunology, 2021, v. 41, n. 5, p. 958, doi. 10.1007/s10875-021-00985-w
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- Publication type:
- Article
Quantitative evaluation of collagen type VI and SOD gene expression in the nuchal skin of human fetuses with trisomy 21.
- Published in:
- Prenatal Diagnosis, 2007, v. 27, n. 10, p. 926, doi. 10.1002/pd.1803
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- Publication type:
- Article
A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders.
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- Prenatal Diagnosis, 2006, v. 26, n. 12, p. 1151, doi. 10.1002/pd.1576
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- Publication type:
- Article
Abnormal abdominal situs: what and how should we look for?
- Published in:
- 2006
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- Publication type:
- journal article
Prenatal diagnosis of trisomy 4p: a new locus for holoprosencephaly?
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- Prenatal Diagnosis, 2005, v. 25, n. 3, p. 193, doi. 10.1002/pd.1102
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- Publication type:
- Article
Prenatal diagnosis of Juberg-Hayward syndrome.
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- Prenatal Diagnosis, 2005, v. 25, n. 2, p. 172, doi. 10.1002/pd.943
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- Publication type:
- Article
Developmental toxicity of the angiotensin II type 1 receptor antagonists during human pregnancy: a report of 10 cases.
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- BJOG: An International Journal of Obstetrics & Gynaecology, 2005, v. 112, n. 6, p. 710, doi. 10.1111/j.1471-0528.2004.00525.x
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- Publication type:
- Article
Hippocampal Radial Glial Subtypes and Their Neurogenic Potential in Human Fetuses and Healthy and Alzheimer’s Disease Adults.
- Published in:
- Cerebral Cortex, 2018, v. 28, n. 7, p. 2458, doi. 10.1093/cercor/bhy096
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- Publication type:
- Article
Dynamic Expression Patterns of Progenitor and Neuron Layer Markers in the Developing Human Dentate Gyrus and Fimbria.
- Published in:
- Cerebral Cortex, 2017, v. 27, n. 1, p. 358, doi. 10.1093/cercor/bhv22
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- Publication type:
- Article
Dynamic Expression Patterns of Progenitor and Pyramidal Neuron Layer Markers in the Developing Human Hippocampus.
- Published in:
- Cerebral Cortex, 2016, v. 26, n. 3, p. 1255, doi. 10.1093/cercor/bhv079
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- Publication type:
- Article
Lack of Renal 11 Beta-Hydroxysteroid Dehydrogenase Type 2 at Birth, a Targeted Temporal Window for Neonatal Glucocorticoid Action in Human and Mice.
- Published in:
- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0031949
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- Publication type:
- Article
New Insight on FGFR3-Related Chondrodysplasias Molecular Physiopathology Revealed by Human Chondrocyte Gene Expression Profiling.
- Published in:
- PLoS ONE, 2009, v. 4, n. 10, p. 1, doi. 10.1371/journal.pone.0007633
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- Publication type:
- Article
Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.
- Published in:
- Kidney International, 2010, v. 77, n. 4, p. 350, doi. 10.1038/ki.2009.440
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- Publication type:
- Article
EXT 1 Gene Mutation Induces Chondrocyte Cytoskeletal Abnormalities and Defective Collagen Expression in the Exostoses.
- Published in:
- Journal of Bone & Mineral Research, 2000, v. 15, n. 8, p. 1489, doi. 10.1359/jbmr.2000.15.8.1489
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- Publication type:
- Article
Absence of Functional Type 1 Parathyroid Hormone (PTH)/PTH-Related Protein Receptors in Humans Is Associated with Abnormal Breast Development and Tooth Impaction.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 4, p. 1788, doi. 10.1210/jcem.86.4.7404
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- Publication type:
- Article
Contribution of fetal MRI to the diagnosis of inner ear abnormalities: report of two cases.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Prenatal diagnosis of horseshoe lung: contribution of MRI.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 1, doi. 10.1186/1750-1172-7-71
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- Publication type:
- Article
Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions.
- Published in:
- 2010
- By:
- Publication type:
- journal article
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
- Published in:
- Human Mutation, 2009, v. 30, n. 11, p. 1574, doi. 10.1002/humu.21116
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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
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 2, p. 469, doi. 10.1093/brain/awr357
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- Publication type:
- Article
Ultrasound assessment of the prognosis in triplet pregnancies.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Zygosity and chorionicity in the prognosis of triplet pregnancies: contribution of microsatellites.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Corrigendum to: DYRK1A interacts with the REST/NRSF-SWI/SNF chromatin remodelling complex to deregulate gene clusters involved in the neuronal phenotypic traits of Down syndrome.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 12, p. 2106, doi. 10.1093/hmg/ddab346
- By:
- Publication type:
- Article
Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2325, doi. 10.1002/ajmg.a.40505
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- Publication type:
- Article