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Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
- Published in:
- Genes, Chromosomes & Cancer, 2010, v. 49, n. 3, p. 242, doi. 10.1002/gcc.20735
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- Publication type:
- Article
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.
- Published in:
- Human Genetics, 2007, v. 121, n. 5, p. 539, doi. 10.1007/s00439-007-0343-1
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- Publication type:
- Article
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.
- Published in:
- Human Genetics, 2006, v. 118, n. 5, p. 578, doi. 10.1007/s00439-005-0072-2
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- Publication type:
- Article
Adult monozygotic twins discordant for intra-uterine growth have indistinguishable genome-wide DNA methylation profiles.
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- Genome Biology, 2013, v. 14, n. 5, p. 1, doi. 10.1186/gb-2013-14-5-r44
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- Publication type:
- Article
A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation.
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- Neurogenetics, 2010, v. 11, n. 2, p. 251, doi. 10.1007/s10048-009-0224-y
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- Publication type:
- Article
What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate.
- Published in:
- 2009
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- Publication type:
- journal article
Sesn1 is a novel gene for left–right asymmetry and mediating nodal signaling.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 22, p. 3369, doi. 10.1093/hmg/ddl413
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- Publication type:
- Article
Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 13, p. 1795, doi. 10.1093/hmg/ddi186
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- Publication type:
- Article
Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 4, p. -1, doi. 10.1038/ejhg.2014.178
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- Publication type:
- Article
Cytogenetic and morphological analysis of early products of conception following hystero-embryoscopy from couples with recurrent pregnancy loss.
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 10, p. 933, doi. 10.1002/pd.3936
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- Publication type:
- Article
Author's response to the letter by Ogawa et al.
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- Prenatal Diagnosis, 2011, v. 31, n. 9, p. 919, doi. 10.1002/pd.2774
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- Publication type:
- Article
Pericardial effusion in the first trimester of pregnancy.
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- Prenatal Diagnosis, 2011, v. 31, n. 2, p. 215, doi. 10.1002/pd.2667
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- Publication type:
- Article
Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH).
- Published in:
- Prenatal Diagnosis, 2010, v. 30, n. 12/13, p. 1198, doi. 10.1002/pd.2651
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- Publication type:
- Article
Comment on 'Genetic considerations in the prenatal diagnosis of overgrowth syndromes', by Vora and Bianchi.
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- Prenatal Diagnosis, 2010, v. 30, n. 5, p. 492, doi. 10.1002/pd.2448
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- Publication type:
- Article
Prenatal diagnosis and pulmonary pathology in congenital high airway obstruction sequence.
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- Prenatal Diagnosis, 2009, v. 29, n. 11, p. 1081, doi. 10.1002/pd.2349
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- Publication type:
- Article
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 166, doi. 10.1038/ejhg.2011.157
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- Publication type:
- Article
The causality of de novo copy number variants is overestimated.
- Published in:
- 2011
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- Publication type:
- Letter
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1, doi. 10.1038/ejhg.2011.108
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- Publication type:
- Article
Angelman syndrome (AS, MIM 105830).
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1367, doi. 10.1038/ejhg.2009.67
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- Publication type:
- Article
MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression.
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- European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1029, doi. 10.1038/ejhg.2008.66
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- Publication type:
- Article
Partial duplications of the ATRX gene cause the ATR-X syndrome.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1094, doi. 10.1038/sj.ejhg.5201878
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- Publication type:
- Article
The complexity of reproductive decision-making in asymptomatic carriers of the Huntington mutation.
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- European Journal of Human Genetics, 2007, v. 15, n. 4, p. 453, doi. 10.1038/sj.ejhg.5201774
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- Publication type:
- Article
Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 4, p. 422, doi. 10.1038/sj.ejhg.5201785
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- Publication type:
- Article
Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 3, p. 375, doi. 10.1038/sj.ejhg.5201758
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- Publication type:
- Article
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 68, doi. 10.1038/sj.ejhg.5201714
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- Publication type:
- Article
Carrier testing in minors: a systematic review of guidelines and position papers.
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- European Journal of Human Genetics, 2006, v. 14, n. 2, p. 133, doi. 10.1038/sj.ejhg.5201509
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- Publication type:
- Article
Partners of mutation-carriers for Huntington's disease: forgotten persons?
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- European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1077, doi. 10.1038/sj.ejhg.5201462
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- Publication type:
- Article
Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males.
- Published in:
- 2005
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- Publication type:
- Letter
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 503, doi. 10.1038/sj.ejhg.5201325
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- Publication type:
- Article
Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia.
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- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 121, doi. 10.1038/sj.ejhg.5201312
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- Publication type:
- Article
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.
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- European Journal of Human Genetics, 2004, v. 12, n. 1, p. 16, doi. 10.1038/sj.ejhg.5201081
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- Publication type:
- Article
No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 109, doi. 10.1038/sj.ejhg.5200930
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- Publication type:
- Article
Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.
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- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 145
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- Publication type:
- Article
PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 1, p. 85, doi. 10.1038/sj.ejhg.5200915
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- Publication type:
- Article
Psychological distress in the 5-year period after predictive testing for Huntington's disease.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 1, p. 30, doi. 10.1038/sj.ejhg.5200913
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- Publication type:
- Article
Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutationi detection (EMD).
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 9, p. 505, doi. 10.1038/sj.ejhg.5200825
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- Publication type:
- Article
Parental mosaicism of JAG1 mutations in families with Alagille syndrome.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 7, p. 559, doi. 10.1038/sj.ejhg.5200671
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- Publication type:
- Article
Parental mosaicism of JAG1 mutations in families with Alagille syndrome.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 3, p. 209, doi. 10.1038/sj.ejhg.5200613
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- Publication type:
- Article
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype–phenotype correlations.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 3, p. 267, doi. 10.1038/sj.ejhg.5200289
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- Publication type:
- Article
Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 1, p. 32, doi. 10.1038/sj.ejhg.5200150
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- Publication type:
- Article
Prenatal diagnosis of the Wolf-Hirschhorn syndrome with increased nuchal translucency and negative serum integrated screening for trisomy 21.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
Aarskog syndrome: from prenatal features towards postnatal diagnosis.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
Case Report: Prenatal diagnosis of 4p deletion with aortic valve stenosis.
- Published in:
- 2010
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- Publication type:
- Journal Article
Case Report: Prenatal diagnosis of anterior encephalocele.
- Published in:
- Ultrasound, 2010, v. 18, n. 1, p. 23, doi. 10.1258/ult.2009.009010
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- Publication type:
- Article
Sedaghatian Type of Spondylometaphyseal Dysplasia and Concurrent Anomalies.
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- Ultrasound, 2009, v. 17, n. 2, p. 96, doi. 10.1179/174313409X386065
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- Publication type:
- Article
Prenatal Diagnosis of Smith–Lemli–Opitz Syndrome.
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- Ultrasound, 2008, v. 16, n. 4, p. 208, doi. 10.1179/174313408X353855
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- Publication type:
- Article
Allo-immune Thrombocytopaenia.
- Published in:
- Ultrasound, 2008, v. 16, n. 4, p. 211, doi. 10.1179/174313408X353846
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- Publication type:
- Article
Triploidy: 109 Prenatal Diagnoses.
- Published in:
- Ultrasound, 2008, v. 16, n. 1, p. 21, doi. 10.1179/174313408X259427
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- Publication type:
- Article
Fetal Caudal Dysgenesis after Maternal Cardiopulmonary Bypass in Pregnancy.
- Published in:
- Ultrasound, 2007, v. 15, n. 2, p. 71, doi. 10.1179/174313407X181073
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- Publication type:
- Article
Prenatal Diagnosis of Hemimegalencephaly: Report of Two Cases.
- Published in:
- Ultrasound, 2006, v. 14, n. 3, p. 176, doi. 10.1179/174313406X120567
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- Publication type:
- Article