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Molecular phenotype and bleeding risks of an inherited platelet disorder in a family with a RUNX1 frameshift mutation

Haemophilia : the official journal of the World Federation of Hemophilia, 2017-05, Vol.23 (3), p.e204-e213

2017

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Krüppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations

International journal of laboratory hematology, 2015-05, Vol.37 (S1), p.78-84

2015

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The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology

Clinical genetics, 2001-06, Vol.59 (6), p.375-386

2001

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DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome

Journal of medical genetics, 2005-04, Vol.42 (4), p.350-357

2005

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Diagnostic testing for α-globin gene disorders in a heterogeneous North American population

International journal of laboratory hematology, 2013-06, Vol.35 (3), p.306-313

2013

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Should we screen for globin gene mutations in blood samples with mean corpuscular volume (MCV) greater than 80 fL in areas with a high prevalence of thalassaemia?

Journal of clinical pathology, 2001-04, Vol.54 (4), p.317-320

2001

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Prevalence and Genotypes of α- and β-Thalassemia Carriers in Hong Kong — Implications for Population Screening

The New England journal of medicine, 1997-05, Vol.336 (18), p.1298-1301

1997

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DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome

Clinical genetics, 2004-12, Vol.66 (6), p.517-524

2004

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Treatment of thalassaemia major with phenylbutyrate and hydroxyurea

The Lancet (British edition), 1997-08, Vol.350 (9076), p.491-492

1997

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Fixed-bin analysis for statistical evaluation of continuous distributions of allelic data from VNTR loci, for use in forensic comparisons

American journal of human genetics, 1991-05, Vol.48 (5), p.841-855

1991

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Gene for Von Recklinghausen Neurofibromatosis is in the Pericentromeric Region of Chromosome 17

Science (American Association for the Advancement of Science), 1987-05, Vol.236 (4805), p.1100-1102

1987

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Human β Satellite DNA: Genomic Organization and Sequence Definition of a Class of Highly Repetitive Tandem DNA

Proceedings of the National Academy of Sciences - PNAS, 1989-08, Vol.86 (16), p.6250-6254

1989

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Structure, organization, and sequence of alpha satellite DNA from human chromosome 17: evidence for evolution by unequal crossing-over and an ancestral pentamer repeat shared with the human X chromosome

Molecular and Cellular Biology, 1986-09, Vol.6 (9), p.3156-3165

1986

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Nonrandom localization of recombination events in human alpha satellite repeat unit variants: implications for higher-order structural characteristics within centromeric heterochromatin

Molecular and Cellular Biology, 1993-10, Vol.13 (10), p.6520-6529

1993

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Genomic organization of alpha satellite DNA on human chromosome 7: evidence for two distinct alphoid domains on a single chromosome

Molecular and Cellular Biology, 1987-01, Vol.7 (1), p.349-356

1987

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Determination of a kinship system using ancient DNA, mortuary practice, and historic records in an upper Canadian pioneer cemetery

International journal of osteoarchaeology, 2003-07, Vol.13 (4), p.232-246

2003

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A simple and sensitive method for quantifying human genomic DNA in forensic specimen extracts

BioTechniques, 1989-09, Vol.7 (8), p.852

1989

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Gene symbol: ARSA

Human genetics, 2007-02, Vol.120 (6), p.909-909

2007

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PCR‐based diagnosis of the Filipino (−−FIL) and Thai (−−THAI) α‐thalassemia‐1 deletions

American journal of hematology, 2000-01, Vol.63 (1), p.54-56

2000

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The α-globin gene cluster : genetics and disorders

Clinical and investigative medicine, 2001-04, Vol.24 (2), p.103-109

2001

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Nucleotide sequence heterogeneity of alpha satellite repetitive DNA: a survey of alphoid sequences from different human chromosomes

Nucleic acids research, 1987-09, Vol.15 (18), p.7549-7569

1987

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Hb Evora [alpha 2-35, Ser-->Pro], a novel hemoglobin variant associated with an alpha-thalassemia phenotype

Haematologica (Roma), 2007-05, Vol.92 (5), p.e68-e68

2007

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Detection of Restriction Fragment Length Polymorphisms at the Centromeres of Human Chromosomes by Using Chromosome-Specific α Satellite DNA Probes: Implications for Development of Centromere-Based Genetic Linkage Maps

Proceedings of the National Academy of Sciences - PNAS, 1986-08, Vol.83 (15), p.5611-5615

1986

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Parentage testing implications of male fertility after allogeneic bone marrow transplantation

Bone marrow transplantation (Basingstoke), 1999, Vol.23 (2), p.187-189

1999

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Molecular phenotype and bleeding risks of an inherited platelet disorder in a family with a RUNX1 frameshift mutation

Krüppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations

The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology

DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome

Diagnostic testing for α-globin gene disorders in a heterogeneous North American population

Should we screen for globin gene mutations in blood samples with mean corpuscular volume (MCV) greater than 80 fL in areas with a high prevalence of thalassaemia?

Prevalence and Genotypes of α- and β-Thalassemia Carriers in Hong Kong — Implications for Population Screening

DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome

Treatment of thalassaemia major with phenylbutyrate and hydroxyurea

Fixed-bin analysis for statistical evaluation of continuous distributions of allelic data from VNTR loci, for use in forensic comparisons

Gene for Von Recklinghausen Neurofibromatosis is in the Pericentromeric Region of Chromosome 17

Human β Satellite DNA: Genomic Organization and Sequence Definition of a Class of Highly Repetitive Tandem DNA

Structure, organization, and sequence of alpha satellite DNA from human chromosome 17: evidence for evolution by unequal crossing-over and an ancestral pentamer repeat shared with the human X chromosome

Nonrandom localization of recombination events in human alpha satellite repeat unit variants: implications for higher-order structural characteristics within centromeric heterochromatin

Genomic organization of alpha satellite DNA on human chromosome 7: evidence for two distinct alphoid domains on a single chromosome

Determination of a kinship system using ancient DNA, mortuary practice, and historic records in an upper Canadian pioneer cemetery

A simple and sensitive method for quantifying human genomic DNA in forensic specimen extracts

Gene symbol: ARSA

PCR‐based diagnosis of the Filipino (−−FIL) and Thai (−−THAI) α‐thalassemia‐1 deletions

P135: THE CLINGEN HEMOGLOBINOPATHY VARIANT CURATION EXPERT PANEL

The α-globin gene cluster : genetics and disorders

Nucleotide sequence heterogeneity of alpha satellite repetitive DNA: a survey of alphoid sequences from different human chromosomes

Hb Evora [alpha 2-35, Ser-->Pro], a novel hemoglobin variant associated with an alpha-thalassemia phenotype

Detection of Restriction Fragment Length Polymorphisms at the Centromeres of Human Chromosomes by Using Chromosome-Specific α Satellite DNA Probes: Implications for Development of Centromere-Based Genetic Linkage Maps

Parentage testing implications of male fertility after allogeneic bone marrow transplantation

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