Found: 32
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A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis.
- Published in:
- 2019
- By:
- Publication type:
- journal article
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 391, doi. 10.1186/s13023-014-0207-4
- By:
- Publication type:
- Article
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1814
- By:
- Publication type:
- Article
Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 5, p. 1, doi. 10.1002/mgg3.1132
- By:
- Publication type:
- Article
Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1760, doi. 10.1002/ajmg.a.38843
- By:
- Publication type:
- Article
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2847, doi. 10.1002/ajmg.a.37878
- By:
- Publication type:
- Article
NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients.
- Published in:
- EMBO Journal, 2020, v. 39, n. 13, p. 1, doi. 10.15252/embj.2019104163
- By:
- Publication type:
- Article
Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus.
- Published in:
- Nature Genetics, 2006, v. 38, n. 3, p. 343, doi. 10.1038/ng1721
- By:
- Publication type:
- Article
Prenatal diagnosis of a partial trisomy 7q in two fetuses with bilateral ventriculomegaly.
- Published in:
- 2000
- By:
- Publication type:
- Case Study
ATP6V0A2‐related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype.
- Published in:
- Experimental Dermatology, 2019, v. 28, n. 10, p. 1142, doi. 10.1111/exd.13723
- By:
- Publication type:
- Article
Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1096, doi. 10.1038/ejhg.2012.51
- By:
- Publication type:
- Article
New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 533, doi. 10.1038/ejhg.2009.207
- By:
- Publication type:
- Article
Homozygosity for a null allele of COL3A1 results in recessive Ehlers–Danlos syndrome.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1411, doi. 10.1038/ejhg.2009.76
- By:
- Publication type:
- Article
Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 3, p. 173, doi. 10.1038/sj.ejhg.5201119
- By:
- Publication type:
- Article
Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023-024-03191-0
- 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
Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 3, p. 384, doi. 10.1111/cge.13500
- By:
- Publication type:
- Article
A New Lamin A Mutation Associated with Acrogeria Syndrome.
- Published in:
- Journal of Investigative Dermatology, 2014, v. 134, n. 8, p. 2274, doi. 10.1038/jid.2014.158
- By:
- Publication type:
- Article
Lack of TEK Gene Mutation in Patients with Cutaneomucosal Venous Malformations from the North-Western Region of Algeria.
- Published in:
- Genetics Research International, 2013, p. 1, doi. 10.1155/2013/784789
- By:
- Publication type:
- Article
Characterisation of a large complex intragenic re-arrangement in the FVII gene ( F7) avoiding misdiagnosis in inherited factor VII deficiency.
- Published in:
- British Journal of Haematology, 2007, v. 138, n. 3, p. 359, doi. 10.1111/j.1365-2141.2007.06660.x
- By:
- Publication type:
- Article
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 1, p. 118, doi. 10.1002/pd.6074
- By:
- Publication type:
- Article
A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 5, p. 393, doi. 10.1002/pd.891
- By:
- Publication type:
- Article
Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations.
- Published in:
- Human Mutation, 2020, v. 41, n. 1, p. 222, doi. 10.1002/humu.23912
- By:
- Publication type:
- Article
Dissecting the Structure and Mechanism of a Complex Duplication-Triplication Rearrangement in the DMD Gene.
- Published in:
- Human Mutation, 2013, v. 34, n. 8, p. 1080, doi. 10.1002/humu.22353
- By:
- Publication type:
- Article
Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?
- Published in:
- Human Mutation, 2011, v. 32, n. 4, p. 467, doi. 10.1002/humu.21471
- By:
- Publication type:
- Article
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.
- Published in:
- Human Mutation, 2010, v. 31, n. 1, p. E1021, doi. 10.1002/humu.21131
- By:
- Publication type:
- Article
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
- Published in:
- 2009
- By:
- Publication type:
- Other
Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype.
- Published in:
- Journal of Bone & Mineral Research, 2015, v. 30, n. 8, p. 1369, doi. 10.1002/jbmr.2471
- By:
- Publication type:
- Article
Polycystic kidney disease associated with intracranial hypertension revealing a mutation of the OFD1 gene.
- Published in:
- Journal of Nephrology (JNonline), 2023, v. 36, n. 3, p. 643, doi. 10.1007/s40620-022-01481-z
- By:
- Publication type:
- Article