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Chromosomal abnormalities in transformed Ph-negative myeloproliferative neoplasms are associated to the transformation subtype and independent of JAK2 and the TET2 mutations.
- Published in:
- Genes, Chromosomes & Cancer, 2010, v. 49, n. 10, p. 919, doi. 10.1002/gcc.20802
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- Publication type:
- Article
Efficient generation of antileukemic autologous T cells by short-term culture and γ-irradiation of myeloid leukemic cells.
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- Cancer Immunology, Immunotherapy, 2004, v. 53, n. 9, p. 793, doi. 10.1007/s00262-004-0528-6
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- Publication type:
- Article
ELN gene triplication responsible for familial supravalvular aortic aneurysm.
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- Cardiology in the Young, 2015, v. 25, n. 4, p. 712, doi. 10.1017/S1047951114000766
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- Article
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
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- 2016
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- Publication type:
- journal article
Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome.
- Published in:
- Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/943905
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- 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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- Article
Clinical utility gene card for: 15q13.3 microdeletion syndrome.
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- European Journal of Human Genetics, 2014, v. 22, n. 11, p. e1, doi. 10.1038/ejhg.2014.88
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- Publication type:
- Article
Clinical utility gene card for: 16p13.11 microdeletion syndrome.
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- European Journal of Human Genetics, 2014, v. 22, n. 5, p. 1, doi. 10.1038/ejhg.2013.230
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- Publication type:
- Article
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.
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- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 471, doi. 10.1038/ejhg.2013.189
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- Publication type:
- Article
Extended spectrum of MBD5 mutations in neurodevelopmental disorders.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1457, doi. 10.1038/ejhg.2013.22
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- Publication type:
- Article
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1100, doi. 10.1038/ejhg.2013.17
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- Publication type:
- Article
Familial occurrence of thymoma and autoimmune diseases with the constitutional translocation t(14;20)(q24.1;p12.3).
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- Genes, Chromosomes & Cancer, 2005, v. 44, n. 2, p. 154
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- Publication type:
- Article
Dysregulation and overexpression of HMGA2 in myelofibrosis with myeloid metaplasia.
- Published in:
- Genes, Chromosomes & Cancer, 2004, v. 39, n. 1, p. 82, doi. 10.1002/gcc.10297
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- Publication type:
- Article
Hypertelorism-microtia-clefting syndrome (HMC syndrome): prenatal diagnosis in two siblings.
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- Prenatal Diagnosis, 2009, v. 29, n. 11, p. 1064, doi. 10.1002/pd.2338
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- Publication type:
- Article
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.
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- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 82, doi. 10.1038/ejhg.2012.116
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- Publication type:
- Article
Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.
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- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1198, doi. 10.1038/ejhg.2011.95
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- Publication type:
- Article
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.
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- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 959, doi. 10.1038/ejhg.2011.71
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- Publication type:
- Article
Pure interstitial dup(6)(q22.31q22.31) - a case report.
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- Italian Journal of Pediatrics, 2015, v. 41, n. 1, p. 1, doi. 10.1186/s13052-015-0113-y
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- Publication type:
- Article
Pure interstitial dup(6)(q22.31q22.31) - a case report.
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- Italian Journal of Pediatrics, 2015, v. 41, n. 1, p. 47, doi. 10.1186/s13052-015-0113-y
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- Publication type:
- Article
Dermatologic Features of Smith-Magenis Syndrome.
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- Pediatric Dermatology, 2015, v. 32, n. 3, p. 337, doi. 10.1111/pde.12517
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- Publication type:
- Article
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum.
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- Clinical Genetics, 2022, v. 101, n. 3, p. 307, doi. 10.1111/cge.14096
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- Article
Prenatal diagnosis of Nager syndrome in a monochorionic-diamniotic twin pregnancy.
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- Prenatal Diagnosis, 2009, v. 29, n. 2, p. 187, doi. 10.1002/pd.2214
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- Publication type:
- Article
Plasma cell growth fraction using Ki-67 antigen expression identifies a subgroup of multiple myeloma patients displaying short survival within the ISS stage I.
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- European Journal of Haematology, 2007, v. 79, n. 4, p. 297, doi. 10.1111/j.1600-0609.2007.00915.x
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- Publication type:
- Article
Male-Biased Autosomal Effect of 16p13.11 Copy Number Variation in Neurodevelopmental Disorders.
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- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0061365
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- Publication type:
- Article
The PI3K/AKT Signaling Pathway Controls the Quiescence of the Low-Rhodaminel23-Retention Cell Compartment Enriched for Melanoma Stem Cell Activity.
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- Stem Cells, 2013, v. 31, n. 4, p. 641, doi. 10.1002/stem.1333
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- Publication type:
- Article
Supernumerary Marker Chromosome in a Child with Microcephaly and Mental Retardation.
- Published in:
- 2010
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- Publication type:
- Case Study
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.
- Published in:
- Human Genetics, 2013, v. 132, n. 10, p. 1177, doi. 10.1007/s00439-013-1322-3
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- Article
A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib.
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- 2012
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- Publication type:
- journal article
Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter.
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- 2013
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- Publication type:
- Case Study
5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 725, doi. 10.1002/ajmg.a.33758
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- Publication type:
- Article
Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 128, doi. 10.1186/s12881-014-0128-z
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- Publication type:
- Article
Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.
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- Human Mutation, 2015, v. 36, n. 9, p. 842, doi. 10.1002/humu.22816
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- Article
Congenital Heart Defects in Patients with Deletions Upstream of SOX9.
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- Human Mutation, 2013, v. 34, n. 12, p. 1628, doi. 10.1002/humu.22449
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- Publication type:
- Article
New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects.
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- Human Mutation, 2011, v. 32, n. 10, p. 1171, doi. 10.1002/humu.21558
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- Publication type:
- Article
Partial deletion of DEPDC5 in a child with focal epilepsy.
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- Epilepsia Open, 2016, v. 1, n. 3/4, p. 140, doi. 10.1002/epi4.12012
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- Article
Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2268, doi. 10.1002/ajmg.a.38307
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- Publication type:
- Article
WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1690, doi. 10.1002/ajmg.a.38206
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- Article
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 435, doi. 10.1002/ajmg.a.38034
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- Publication type:
- Article
Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 498, doi. 10.1002/ajmg.a.37450
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- Publication type:
- Article
Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1252, doi. 10.1002/ajmg.a.36932
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- Publication type:
- Article
Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1008, doi. 10.1002/ajmg.a.36856
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- Publication type:
- Article
Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 504, doi. 10.1002/ajmg.a.36882
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- Publication type:
- Article
Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 428, doi. 10.1002/ajmg.a.36857
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- Publication type:
- Article
The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 185, doi. 10.1002/ajmg.a.36428
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- Publication type:
- Article
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 111, doi. 10.1002/ajmg.a.36807
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- Publication type:
- Article
Whole ARX gene duplication is compatible with normal intellectual development.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2324, doi. 10.1002/ajmg.a.36564
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- Publication type:
- Article
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1666, doi. 10.1002/ajmg.a.36513
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- Publication type:
- Article
Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1537, doi. 10.1002/ajmg.a.36471
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- Publication type:
- Article
Pathogenesis of congenital diaphragmatic hernia: Additional clues regarding the involvement of the endothelin system.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 208, doi. 10.1002/ajmg.a.36216
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- Publication type:
- Article
Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2564, doi. 10.1002/ajmg.a.36079
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- Publication type:
- Article