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Organ Weights in Human Fetuses after Formalin Fixation: Standards by Gestational Age and Body Weight.
- Published in:
- Pediatric & Developmental Pathology, 2002, v. 5, n. 6, p. 559, doi. 10.1007/s10024-002-0036-7
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- Article
Unusual Variant of Holoprosencephaly in Monosomy 13q.
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- Pediatric & Developmental Pathology, 2002, v. 5, n. 2, p. 170, doi. 10.1007/s10024001-0200-5
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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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- Article
Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in <bold>EFEMP2</bold>.
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- Molecular Syndromology, 2018, v. 9, n. 4, p. 190, doi. 10.1159/000489838
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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.
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- 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
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- Publication type:
- journal article
Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions.
- Published in:
- 2010
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- Publication type:
- journal article
Zygosity and chorionicity in the prognosis of triplet pregnancies: contribution of microsatellites.
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- 2008
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- Publication type:
- journal 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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- Article
Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 479, doi. 10.1002/ajmg.a.37974
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- Article
Fetal phenotype associated with the 22q11 deletion.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2724, doi. 10.1002/ajmg.a.36720
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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.
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- 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
Central nervous system malformations and deformations in FGFR2-related craniosynostosis.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2797, doi. 10.1002/ajmg.a.35598
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- Publication type:
- Article
Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2430, doi. 10.1002/ajmg.a.35548
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- Publication type:
- Article
Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.
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- Kidney International, 2010, v. 77, n. 4, p. 350, doi. 10.1038/ki.2009.440
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- Article
EXT 1 Gene Mutation Induces Chondrocyte Cytoskeletal Abnormalities and Defective Collagen Expression in the Exostoses.
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- 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
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
Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann features.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 6, p. 511, doi. 10.1002/1097-0223(200006)20:6<511::AID-PD849>3.0.CO;2-B
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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
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- Publication type:
- journal article
Prenatal diagnosis of horseshoe lung: contribution of MRI.
- Published in:
- 2005
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- Publication type:
- journal article
Lack of Renal 11 Beta-Hydroxysteroid Dehydrogenase Type 2 at Birth, a Targeted Temporal Window for Neonatal Glucocorticoid Action in Human and Mice.
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- 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.
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- PLoS ONE, 2009, v. 4, n. 10, p. 1, doi. 10.1371/journal.pone.0007633
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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.
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- 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
Correlation between colored Doppler echography of fetal thyroid goiters and histologic study.
- Published in:
- 2010
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- Publication type:
- journal article
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
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- 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
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
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- Brain: A Journal of Neurology, 2012, v. 135, n. 2, p. 469, doi. 10.1093/brain/awr357
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- Article
Ultrasound assessment of the prognosis in triplet pregnancies.
- Published in:
- 2009
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- Publication type:
- journal article
Insulin-like 4 (INSL4) gene expression in human embryonic and trophoblastic tissues.
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- 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
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
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- 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
Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy.
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- Annals of Neurology, 2015, v. 78, n. 3, p. 387, doi. 10.1002/ana.24446
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- Article
Zygosity and chorionicity in triplet pregnancies: new data.
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- Human Reproduction, 2009, v. 24, n. 1, p. 100
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- Publication type:
- 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.
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- Human Molecular Genetics, 2022, v. 31, n. 12, p. 2106, doi. 10.1093/hmg/ddab346
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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.
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- 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.
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- Cerebral Cortex, 2017, v. 27, n. 1, p. 358, doi. 10.1093/cercor/bhv22
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- Article
Dynamic Expression Patterns of Progenitor and Pyramidal Neuron Layer Markers in the Developing Human Hippocampus.
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- Cerebral Cortex, 2016, v. 26, n. 3, p. 1255, doi. 10.1093/cercor/bhv079
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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
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.
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- Prenatal Diagnosis, 2012, v. 32, n. 7, p. 649, doi. 10.1002/pd.3877
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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?
- Published in:
- Prenatal Diagnosis, 2005, v. 25, n. 3, p. 193, doi. 10.1002/pd.1102
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- Publication type:
- Article