Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence?

No abstract is available for this paper.

• Publication year

  1981

• Venue

  New England Journal of Medicine

• Publication date

  1981-09-10

• Fields of study

  Medicine

• Identifiers
  DOI 10.1056/NEJM198109103051103PMID 6267462
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Partial deletion of the α-globin structural gene in human α-thalassaemia

  1980cited by this paper
• The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions.

  1980cited by this paper
• Characterisation of a new alpha thalassemia 1 defect due to a partial deletion of the alpha globin gene complex.

  1980cited by this paper
• The chromosomal arrangement of human α-like globin genes: Sequence homology and α-globin gene deletions

  1980cited by this paper
• Partial deletion of the alpha-globin structural gene in human alpha-thalassaemia.

  1980cited by this paper
• Characterisation of a new α thalassemia 1 defect due to a partial deletion of the α globin gene complex

  1980cited by this paper
• Determination of Alpha Thalassaemia Phenotypes by Messenger RNA Analysis

  1980cited by this paper
• A new genetic basis for hemoglobin-H disease.

  1980cited by this paper
• Gene deletions in alpha thalassemia prove that the 5' zeta locus is functional.

  1980cited by this paper
• The molecular basis of alpha-thalassemias: frequent occurrence of dysfunctional alpha loci among non-Asians with Hb H disease.

  1979cited by this paper
• Heritable fragile sites on human chromosomes I. Factors affecting expression in lymphocyte culture.

  1979cited by this paper
• Five familial cases with a trisomy 16p syndrome due to translocation

  1979cited by this paper
• The molecular basis of α-thalassemias: Frequent occurrence of dysfunctional α loci among non-Asians with Hb H disease

  1979cited by this paper
• Heritable fragile sites on human chromosomes I. Factors affecting expression in lymphocyte culture.

  1979cited by this paper
• Acquired Haemoglobin H Disease in Leukaemia: Pathophysiology and Molecular Basis

  1978cited by this paper
• Identification of a nondeletion defect in α-thalassemia.

  1977cited by this paper
• Partial trisomy 16q-

  1977cited by this paper
• Identification of a nondeletion defect in alpha-thalassemia.

  1977cited by this paper
• Partial monosomy of the long arm of chromosome 16 in a malformed newborn: Karyotype 46,XX,del(16)(q21)

  1977cited by this paper
• High resolution of human chromosomes.

  1976cited by this paper
• Isolation of high-molecular-weight DNA from mammalian cells.

  1973cited by this paper
• A ring chromosome No. 16 in an infant with primary hypoparathyroidism.

  1970cited by this paper
• [Alpha-thalassemia with HbH and Hb Bart's in a German family].

  1967cited by this paper
• HAEMOGLOBIN BART'S AND H IN A SWEDISH BOY.

  1964cited by this paper

• Cognitive decline in an adult with ATR-16 syndrome due to an unbalanced translocation between 11p15.5 and 16p13.3: a case report

  2025cites this paper
• ATRX: From Chromatin Remodeling to Disease

  2025cites this paper
• Pyridostigmine as a therapeutic option for pediatric gastrointestinal dysmotilities in ATR-X syndrome. Case report and literature review

  2024cites this paper
• Mutant ATRX: pathogenesis of ATRX syndrome and cancer

  2024cites this paper
• Identification of a Hemizygous Novel Splicing Variant in ATRX Gene: A Case Report and Literature Review

  2022cites this paper
• Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights

  2022cites this paper
• Epigenetic genes and epilepsy — emerging mechanisms and clinical applications

  2022cites this paper
• Noniron deficiency microcytic anemia, dysmorphic features, and intellectual disability: Diagnostic clues for α-thalassemia/mental retardation associated with chromosome 16 syndrome.

  2022cites this paper
• ATR‐X: α‐Thalassemia Mental Retardation‐X‐Linked

  2021cites this paper
• Thalassemias: From gene to therapy.

  2021cites this paper
• The Histone H3 Family and Its Deposition Pathways.

  2020cites this paper
• Letters to the Editor

  2020cites this paper
• Nonneoplastic Diseases of the Testis

  2020cites this paper
• New heritable ATRX mutation identified by whole exome sequencing and review

  2020cites this paper
• David “DJ” Weatherall

  2019cites this paper
• ATRX tames repetitive DNA within heterochromatin to promote normal brain development and regulate oncogenesis

  2019cites this paper
• Persistence of skewed X-chromosome inactivation in pre-B acute lymphoblastic leukemia of a female ATRX mutation carrier.

  2019cites this paper
• Inactivation of ATRX in forebrain excitatory neurons affects hippocampal synaptic plasticity

  2019cites this paper
• Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract.

  2017cites this paper
• and anAIuI Repeat

  2017cites this paper
• Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia

  2017cites this paper
• The Loss Of ATRX Creates Susceptibility To KRAS-Mediated Pancreatic Damage

  2017cites this paper
• Role of ATRX Chromatin Remodelling Factor in α‐Thalassaemia X‐Linked Mental Retardation

  2016cites this paper
• Perspectives in Pediatric Pathology, Chapter 6. Male Undermasculinization

  2015cites this paper
• ATRX loss-of-function in mouse neuroprogenitor cells as a model of early events in gliomagenesis

  2015cites this paper
• Experiences and coping strategies of Jordanian parents of children with Beta Thalassaemia Major

  2014cites this paper
• The α-thalassemias.

  2014cites this paper
• Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies

  2014cites this paper
• The role of the inherited disorders of hemoglobin, the first "molecular diseases," in the future of human genetics.

  2013cites this paper
• Histone Regulation in the CNS: Basic Principles of Epigenetic Plasticity

  2013cites this paper
• Genetic basis of hereditary persistence of fetal haemoglobin

  2013cites this paper
• Chromatin Structure and Intellectual Disability Syndromes

  2013cites this paper
• Haematological Diseases in the Tropics

  2013cites this paper
• Chapter 2 Chromatin Structure and Intellectual Disability Syndromes

  2013cites this paper
• α-Thalassemia, mental retardation, and myelodysplastic syndrome.

  2012cites this paper
• Thalassaemia: the long road from the bedside through the laboratory to the community

  2011cites this paper
• ATRX in chromatin assembly and genome architecture during development and disease.

  2011cites this paper
• The role of epigenetic factors in the pathogenesis of familial X-linked mental retardation (XLMR)

  2010cites this paper
• Characterization of DATR-X in the Drosophila embryonic central nervous system

  2010cites this paper
• Bases moléculaires des syndromes thalassémiques et facteurs génétiques modulateurs de sévérité de la beta-thalassémie.

  2010cites this paper
• Thalassemia: the long road from the bedside through the laboratory to the community

  2010cites this paper
• The First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea

  2010cites this paper
• The Alpha Thalassaemias

  2009cites this paper
• Un fenotipo clínicamente reconocible: síndrome alfa-talasemia con retraso mental ligado al cromosoma X (ATR-X). Análisis clínico y molecular en dos hermanos

  2009influential citation
• Phenotype–genotype characterization of alpha‐thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3

  2008cites this paper
• Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse model.

  2007cites this paper
• Dysmorphology demystified

  2007cites this paper
• The molecular pathology of the ox globin genes

  2007cites this paper
• The human genome; you gain some, you lose some

  2007cites this paper
• Refinement of the genetic cause of ATR-16

  2007cites this paper
• 8 Protein Alterations in Mental Retardation

  2007cites this paper
• Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX

  2007cites this paper
• Mutations in PHD‐like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome

  2006cites this paper
• ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X‐inactivation pattern

  2006cites this paper
• Bases moléculaires et physiopathologiques des maladies de l'hémoglobine

  2006cites this paper
• Clinical Features and Molecular Analysis of the a Thalsemia/Mental Retardation Syndromes. 1. Cases Due to Deletions Involving Chromosome Band 16pl3.3

  2006cites this paper
• Clinical Features and Molecular Analysis of the a Thalassemia / Mental Retardation Syndromes . II . Cases without Detectable Abnormality of the a Globin Complex A .

  2006cites this paper
• Understanding α‐Globin Gene Regulation: Aiming to Improve the Management of Thalassemia

  2005cites this paper
• Asplenia in ATR‐X syndrome: A second report

  2005cites this paper
• ATR-16 Due to a De Novo Complex Rearrangement of Chromosome 16

  2005cites this paper
• Cluster as the Molecular Basis for the Rare a-Thalassemia-1 (--/aa) in Blacks: HbH Disease in Sickle Cell Trait

  2005cites this paper
• Clinical Report Asplenia in ATR-X Syndrome: A Second Report

  2005cites this paper
• an AIuI Repeat

  2005cites this paper
• A woman with 46,XX,dup(16)(p13.11 p13.3) and the ATR‐X phenotype

  2005cites this paper
• Copy number variation and mental retardation

  2005cites this paper
• 2003 William Allan Award address. The Thalassemias: the role of molecular genetics in an evolving global health problem.

  2004cites this paper
• α-Globin gene deletion causes α-thalassemia syndromes in two German families

  2004cites this paper
• Gene regulation in hematopoiesis: new lessons from thalassemia.

  2004cites this paper
• DNA polymorphism and molecular pathology of the human globin gene clusters

  2004cites this paper
• Heterogeneity of the α-globin gene defects in German α-thalassemia affected families

  2004cites this paper
• DNA polymorphism and molecular pathology of the human globin gene clusters

  2004cites this paper
• X-Linked Mental Retardation (XLMR): From Clinical Conditions to Cloned Genes

  2004cites this paper
• Extrapleural Pneumonectomy for Early-Stage Diffuse Malignant Pleural Mesothelioma

  2004cites this paper
• Telomeres: a diagnosis at the end of the chromosomes

  2003cites this paper
• Human Embryonic (-Globin Chain Expression in Deletional a-Thalassemias

  2003cites this paper
• Syndromes of disordered chromatin remodeling

  2003cites this paper
• ATR-X Syndrome

  2003cites this paper
• Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.

  2001cites this paper
• Effect of alpha-globin genotype on the pathophysiology of sickle cell disease.

  2001cites this paper
• Effect of α-Globin Genotype on the Pathophysiology of Sickle Cell Disease

  2001cites this paper
• Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).

  2000cites this paper
• Molecular-clinical spectrum of the ATR-X syndrome.

  2000cites this paper
• X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large family.

  1999cites this paper
• From genotype to phenotype: genetics and medical practice in the new millennium.

  1999cites this paper
• X-linked mental retardation syndrome with characteristic "coarse" facial appearance, brachydactyly, and short stature maps to proximal Xq.

  1999cites this paper
• X-linked mental retardation.

  1999cites this paper
• X-linked α-thalassemia/ mental retardation syndrome (ATR-X)の3症例

  1998cites this paper
• The population genetics of the haemoglobinopathies.

  1998cites this paper
• De novo 16p deletion: ATR-16 syndrome.

  1997cites this paper
• The genetics of mental retardation.

  1996cites this paper
• The alpha-thalassemia/mental retardation syndromes.

  1996cites this paper
• A japanese patient with X-linked α-thalassemia/mental retardation syndrome: An additional case report

  1996cites this paper
• Questions of intelligence

  1995cites this paper
• X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression.

  1995cites this paper
• Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).

  1995cites this paper
• Male pseudohermaphroditism in sibs with the α-thalassemia/mental retardation (ATR-X) syndrome

  1995cites this paper
• Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome.

  1995cites this paper
• Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?

  1995cites this paper
• Recent molecular advances in dysmorphology.

  1995cites this paper
• The molecular basis for phenotypic variability of the common thalassaemias.

  1995cites this paper