Severe lysosomal storage disease of liver in del(1)(p36): a new presentation.

No abstract is available for this paper.

• Publication year

  2011

• Venue

  European Journal of Medical Genetics

• Publication date

  2011-05-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/j.ejmg.2010.11.012PMID 21145995
• 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.

• Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

  2008cited by this paper
• A new case of proximal monosomy 1p36, extending the phenotype

  2008cited by this paper
• Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation

  2008cited by this paper
• Lipolysosomes in Human Hepatocytes: Their Increase in Number Associated with Serum Level of Cholesterol in Chronic Liver Diseases

  2007cited by this paper
• Identification of proximal 1p36 deletions using array‐CGH: a possible new syndrome

  2007cited by this paper
• Monosomy 1p36 deletion syndrome

  2007cited by this paper
• Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.

  2006cited by this paper
• Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems.

  2006cited by this paper
• Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or “deletion with positional effect” syndrome?

  2005cited by this paper
• 1p36 deletion syndrome with intestinal malrotation and annular pancreas

  2005cited by this paper
• Del 1p36 syndrome: a newly emerging clinical entity.

  2005cited by this paper
• Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure

  2005cited by this paper
• Unexpected death of a 12 year old boy with monosomy 1p36.

  2004cited by this paper
• Redundant skin over the nape in a girl with monosomy 1p36 caused by a de-novo satellited derivative chromosome: a possible new feature?

  2004cited by this paper
• Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality

  2003cited by this paper
• Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.

  2003cited by this paper
• Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski−/− mice

  2002cited by this paper
• The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression.

  2002cited by this paper
• Monosomy 1p36--a recently delineated, clinically recognizable syndrome.

  2002cited by this paper
• The human γ-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression

  2002cited by this paper
• Loss of the Potassium Channel β‐Subunit Gene, KCNAB2, Is Associated with Epilepsy in Patients with 1p36 Deletion Syndrome

  2001cited by this paper
• Molecular mechanisms for constitutional chromosomal rearrangements in humans.

  2000cited by this paper
• Monosomy 1p36

  1999cited by this paper
• Mosaicism for deletion 1p36.33 in a patient with obesity and hyperphagia.

  1997cited by this paper
• Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.

  1997cited by this paper
• Chromosome 1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes.

  1995cited by this paper
• Partial monosomy of chromosome 1p36.3: characterization of the critical region and delineation of a syndrome.

  1995cited by this paper
• Clinical consequences of deletion 1p35.

  1988cited by this paper
• Clinical consequences ofdeletion lp35

  1987cited by this paper

• Volumetric analysis of lymphocyte lipid droplets in type 2 diabetes mellitus patients with hyperlipidemia

  2023cites this paper
• DELETION 1p36 SYNDROME

  2020cites this paper
• Liver Transplantation in a Patient with 1p36 Deletion Syndrome

  2020cites this paper
• A Case Report of 1 p 36 Deletion Syndrome and Suspected Cytomegalovirus Infection 1 p 36

  2019cites this paper
• A Novel Case of Biliary Atresia in a Premature Neonate With 1p36 Deletion Syndrome

  2018cites this paper
• Occurrence and characterization of lipofuscin and ceroid in human atherosclerotic plaque

  2018cites this paper
• First case of nonalcoholic steatohepatitis in a child with del(1p36) and dup (Xp22): review of the literature.

  2017influential citation
• Mini-Review: Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes.

  2016cites this paper
• Monosomy 1 p 36 syndrome : reviewing the correlation between deletion sizes and phenotypes

  2016cites this paper
• Delineating the phenotype of 1p36 deletion in adolescents and adults

  2014cites this paper
• Deletions and Other Structural Abnormalities of the Autosomes

  2013cites this paper
• First proteomic exploration of protein-encoding genes on chromosome 1 in human liver, stomach, and colon.

  2013cites this paper
• What's in a Name?—“Lipolysosome”: Ultrastructural Features of a Lipid-containing Organelle

  2013cites this paper
• Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature

  2011cites this paper