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DNA methylation profiling in Trisomy 21 females with and without breast cancer.
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- Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1203483
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- Article
Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 5, p. 1844, doi. 10.1093/brain/awac402
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- Article
Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome.
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- Molecular Syndromology, 2021, v. 12, n. 6, p. 342, doi. 10.1159/000517253
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- Article
Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1865, doi. 10.1002/ajmg.a.61730
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- Article
Transcriptomic study in women with trisomy 21 identifies a possible role of the GTPases of the immunity-associated proteins (GIMAP) in the protection of breast cancer.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66469-w
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- Article
Homozygous deletion of exons 2–7 within TGFB3 gene in a child with severe Loeys‐Dietz syndrome and Marfan‐like features.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1230, doi. 10.1002/ajmg.a.61508
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- Article
CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review.
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- Case Reports in Medicine, 2020, p. 1, doi. 10.1155/2020/8795607
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- Article
Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.
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- Human Molecular Genetics, 2019, v. 28, n. 14, p. 2378, doi. 10.1093/hmg/ddz060
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- Article
Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation?
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- Molecular Syndromology, 2019, v. 10, n. 4, p. 219, doi. 10.1159/000501114
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- Article
The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population.
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- BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0474-y
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- Article
Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation.
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- Electrophoresis, 2018, v. 39, n. 24, p. 3123, doi. 10.1002/elps.201800021
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- Article
COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?
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- Molecular Syndromology, 2018, v. 9, n. 6, p. 319, doi. 10.1159/000494465
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- Article
Homozygous microdeletion of the ERI1 and MFHAS1 genes in a patient with intellectual disability, limb abnormalities, and cardiac malformation.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1955, doi. 10.1002/ajmg.a.38271
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- Article
Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.
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- BMC Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12863-017-0471-0
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- Article
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
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- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0304-4
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- Article
Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
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- 2016
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- Publication type:
- commentary
10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2707, doi. 10.1002/ajmg.a.37211
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- Article
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
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- Human Mutation, 2015, v. 36, n. 11, p. 1021, doi. 10.1002/humu.22828
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- Article
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
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- 2015
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- Publication type:
- journal article
Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0149-0
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- Article
A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects.
- Published in:
- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0127903
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- Article
Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0130-y
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- Article
Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families.
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- Human Mutation, 2014, v. 35, n. 10, p. 1203, doi. 10.1002/humu.22617
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- Article
Intragenic rearrangements in X-linked intellectual deficiency: Results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1991, doi. 10.1002/ajmg.a.36602
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- Article
Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome.
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- Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 4, p. 319, doi. 10.1002/mgg3.70
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- Article
Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-56
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- Article
The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia.
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- PLoS Genetics, 2014, v. 10, n. 5, p. 1, doi. 10.1371/journal.pgen.1004311
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- Article
A second family with autosomal recessive spondylometaphyseal dysplasia and early death.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1010, doi. 10.1002/ajmg.a.36372
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- Article
Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology.
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- 2014
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- Publication type:
- journal article
The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1253, doi. 10.1038/ejhg.2013.24
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- Article
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-110
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- Article
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
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- Human Molecular Genetics, 2013, v. 22, n. 8, p. 1483, doi. 10.1093/hmg/dds514
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- Article
Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2.
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- Human Mutation, 2013, v. 34, n. 4, p. 587, doi. 10.1002/humu.22275
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- Article
Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations.
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- European Journal of Endocrinology, 2013, v. 167, n. 1, p. K1, doi. 10.1530/EJE-12-0701
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- Article
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.
- Published in:
- 2013
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- Publication type:
- journal article
DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations.
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- European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1044, doi. 10.1038/ejhg.2012.41
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- Article
Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: A new collagenopathy?
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1185, doi. 10.1002/ajmg.a.35279
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- Article
Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1147, doi. 10.1002/ajmg.a.33938
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- Article
How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 880, doi. 10.1002/ajmg.a.33879
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- Article
Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.
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- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 452, doi. 10.1038/ejhg.2010.212
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- Article
Heterochromatic Genes Undergo Epigenetic Changes and Escape Silencing in Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) Syndrome.
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- PLoS ONE, 2011, v. 6, n. 4, p. 1, doi. 10.1371/journal.pone.0019464
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- Article
A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22.
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- Neurogenetics, 2011, v. 12, n. 1, p. 73, doi. 10.1007/s10048-010-0256-3
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- Article
UN BON CONSEIL GÉNÉTIQUE EST-IL CONCILIABLE AVEC UNE BONNE PRATIQUE ÉTHIQUE ?
- Published in:
- Lebanese Medical Journal, 2011, v. 59, n. 1, p. 23
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- Article
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 29, doi. 10.1186/1750-1172-6-29
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- Article
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.
- Published in:
- 2011
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- Publication type:
- journal article
Epigenetic Silencing of Lysyl Oxidase-Like-1 through DNA Hypermethylation in an Autosomal Recessive Cutis Laxa Case.
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- Journal of Investigative Dermatology, 2010, v. 130, n. 11, p. 2594, doi. 10.1038/jid.2010.186
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- Publication type:
- Article
CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592.
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- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1107, doi. 10.1038/ejhg.2010.82
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- Article
Collaborative genomics for human health and cooperation in the Mediterranean region.
- Published in:
- Nature Genetics, 2010, v. 42, n. 8, p. 641, doi. 10.1038/ng0810-641
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- Article
A New Familial Sclerosing Bone Dysplasia.
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- Journal of Bone & Mineral Research, 2010, v. 25, n. 3, p. 676, doi. 10.1359/jbmr.090733
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- Article
A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.
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- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1076, doi. 10.1038/ejhg.2008.273
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- Article