Found: 67
Select item for more details and to access through your institution.
X-linked mental retardation exhibiting linkage to DXS255 and PGKP1: a new MRX family (MRX14) with localization in the pericentromeric region.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 3, p. 145, doi. 10.1111/j.1399-0004.1994.tb04012.x
- By:
- Publication type:
- Article
Congenital neonatal myotonic dystrophy with persistent pulmonary hypertension and coma: a difficult diagnosis.
- Published in:
- Journal of Perinatal Medicine, 1999, v. 27, n. 2, p. 136
- By:
- Publication type:
- Article
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.
- Published in:
- Human Genetics, 2021, v. 140, n. 6, p. 885, doi. 10.1007/s00439-020-02252-1
- By:
- Publication type:
- Article
Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 5, p. 1365, doi. 10.3390/jcm9051365
- By:
- 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
- By:
- Publication type:
- Article
X‐Linked intellectual disability update 2022.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 144, doi. 10.1002/ajmg.a.63008
- By:
- Publication type:
- Article
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 392, doi. 10.1002/ajmg.a.37452
- By:
- Publication type:
- Article
Prenatal findings in cardio-facio-cutaneous syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 441, doi. 10.1002/ajmg.a.37420
- By:
- Publication type:
- Article
Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1252, doi. 10.1002/ajmg.a.36932
- By:
- Publication type:
- Article
Prenatal findings in carpenter syndrome and a novel mutation in RAB23.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2926, doi. 10.1002/ajmg.a.36726
- By:
- Publication type:
- Article
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of MED12 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1821, doi. 10.1002/ajmg.a.36539
- By:
- Publication type:
- Article
Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 282, doi. 10.1002/ajmg.a.36199
- By:
- Publication type:
- Article
A new form of severe spondyloepimetaphyseal dysplasia: Clinical and radiological characterization.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2645, doi. 10.1002/ajmg.a.36132
- By:
- Publication type:
- Article
Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 131, doi. 10.1002/ajmg.a.35700
- By:
- Publication type:
- Article
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: The diagnostic value of rib malformations and index nail and finger hypoplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2245, doi. 10.1002/ajmg.a.35474
- By:
- Publication type:
- Article
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 6, p. 639, doi. 10.1038/ng.2262
- By:
- Publication type:
- Article
Fetal fibrochondrogenesis at 26 weeks' gestation.
- Published in:
- Prenatal Diagnosis, 2002, v. 22, n. 9, p. 806, doi. 10.1002/pd.423
- By:
- Publication type:
- Article
Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype.
- Published in:
- PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0030778
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 602, doi. 10.1038/ejhg.2012.230
- By:
- Publication type:
- Article
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 82, doi. 10.1038/ejhg.2012.116
- By:
- Publication type:
- Article
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 527, doi. 10.1038/ejhg.2011.233
- By:
- Publication type:
- Article
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 3, p. 285, doi. 10.1038/ejhg.2009.159
- By:
- Publication type:
- Article
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 434, doi. 10.1038/ejhg.2008.192
- By:
- Publication type:
- Article
Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 454, doi. 10.1038/ejhg.2008.214
- By:
- Publication type:
- Article
A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1054, doi. 10.1038/sj.ejhg.5201885
- By:
- Publication type:
- Article
Genotype–phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the ‘association des Cytogénéticiens de langue Française’.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 4, p. 446, doi. 10.1038/sj.ejhg.5201784
- By:
- Publication type:
- Article
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 690, doi. 10.1038/sj.ejhg.5201383
- By:
- Publication type:
- Article
Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 9, p. 516, doi. 10.1038/sj.ejhg.5200846
- By:
- Publication type:
- Article
Severe cognitive impairment in DMD: obvious clinical evidence for Dp71 isoform point mutations screening.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 7, p. 552, doi. 10.1038/sj.ejhg.5200488
- By:
- Publication type:
- Article
Systematic analysis of X-inactivation in 19 XLMR families: extremely skewed profiles in carriers in three families.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 253, doi. 10.1038/sj.ejhg.5200437
- By:
- Publication type:
- Article
Pentalogy of Cantrell: sonographic assessment.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.
- Published in:
- JAMA Neurology, 2018, v. 75, n. 5, p. 591, doi. 10.1001/jamaneurol.2017.5121
- By:
- Publication type:
- Article
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 7, p. 1753
- By:
- Publication type:
- Article
Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature.
- Published in:
- Pediatric Dermatology, 2019, v. 36, n. 2, p. 242, doi. 10.1111/pde.13748
- By:
- Publication type:
- Article
A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 3, p. 377, doi. 10.1111/cge.14270
- By:
- Publication type:
- Article
Heterozygous HMGB1 loss‐of‐function variants are associated with developmental delay and microcephaly.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 4, p. 386, doi. 10.1111/cge.14015
- By:
- Publication type:
- Article
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 5, p. 650, doi. 10.1111/cge.13918
- By:
- Publication type:
- Article
Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 3, p. 407, doi. 10.1111/cge.13894
- By:
- Publication type:
- Article
The molecular basis of p21-activated kinase-associated neurodevelopmental disorders: From genotype to phenotype.
- Published in:
- Frontiers in Neuroscience, 2023, v. 17, p. 1, doi. 10.3389/fnins.2023.1123784
- By:
- Publication type:
- Article
Detection of an Intragenic Deletion Expands the Spectrum of CTSC Mutations in Papillon–Lefèvre Syndrome.
- Published in:
- 2008
- By:
- Publication type:
- Essay
A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype.
- Published in:
- 2018
- By:
- Publication type:
- Letter
Early onset collagen VI myopathies: Genetic and clinical correlations.
- Published in:
- Annals of Neurology, 2010, v. 68, n. 4, p. 511, doi. 10.1002/ana.22087
- By:
- Publication type:
- Article
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Pulmonary alveolar proteinosis revealing a telomerase disease.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
Pulmonary Alveolar Proteinosis Revealing a Telomerase Disease.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2013, v. 188, n. 3, p. 402, doi. 10.1164/rccm.201301-0010le
- By:
- Publication type:
- Article
Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 515, doi. 10.1007/s10545-010-9251-y
- By:
- Publication type:
- Article
Inborn error of amino acid synthesis: Human glutamine synthetase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 2/3, p. 352, doi. 10.1007/s10545-006-0256-5
- By:
- Publication type:
- Article
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.839
- By:
- Publication type:
- Article