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Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

American journal of human genetics, 2010-08, Vol.87 (2), p.219-228

2010

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Angelman syndrome 2005: Updated consensus for diagnostic criteria

American journal of medical genetics. Part A, 2006-03, Vol.140A (5), p.413-418

2006

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Amphetamine, 3,4-Methylenedioxymethamphetamine, Lysergic Acid Diethylamide, and Metabolites of the Catecholamine Neurotransmitters Are Agonists of a Rat Trace Amine Receptor

Molecular pharmacology, 2001-12, Vol.60 (6), p.1181-1188

2001

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Hematopathologic and cytogenetic findings in imatinib mesylate–treated chronic myelogenous leukemia patients: 14 months' experience

Blood, 2002-07, Vol.100 (2), p.435-441

2002

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The impact of clonal evolution on response to imatinib mesylate (STI571) in accelerated phase CML

Blood, 2002-09, Vol.100 (5), p.1628-1633

2002

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Y chromosome heterochromatin of differing lengths in two cell populations of the same individual

Prenatal diagnosis, 2005-04, Vol.25 (4), p.304-306

2005

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Specific extra chromosomes occur in a modal number dependent pattern in pediatric acute lymphoblastic leukemia

Genes chromosomes & cancer, 2007-07, Vol.46 (7), p.684-693

2007

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Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion

American journal of medical genetics. Part A, 2009-07, Vol.149A (7), p.1382-1391

2009

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RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome

American journal of medical genetics. Part A, 2006-11, Vol.140A (22), p.2454-2463

2006

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SNRPN methylation patterns in germ cell tumors as a reflection of primordial germ cell development

Genes chromosomes & cancer, 2001-12, Vol.32 (4), p.342-352

2001

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A Common Molecular Basis for Rearrangement Disorders on Chromosome 22q11

Human molecular genetics, 1999-07, Vol.8 (7), p.1157-1167

1999

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DNA Cross-Linker–Induced G2/M Arrest in Group C Fanconi Anemia Lymphoblasts Reflects Normal Checkpoint Function

Blood, 1998-01, Vol.91 (1), p.275-287

1998

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Meiotic exchange event within the stalk region of an inverted chromosome 22 results in a recombinant chromosome with duplication of the distal long arm

American journal of medical genetics. Part A, 2005-11, Vol.138A (4), p.355-360

2005

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Mosaicism of proximal 15q duplication/deletion resulting in Prader-Willi syndrome with normal methylation

American journal of medical genetics. Part A, 2005-10, Vol.138A (2), p.181-184

2005

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Cytogenetic analysis of a primary bone angiosarcoma

Cancer genetics and cytogenetics, 2009-10, Vol.194 (1), p.1-3

2009

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DNA Cross-Linker–Induced G2/M Arrest in Group C Fanconi Anemia Lymphoblasts Reflects Normal Checkpoint Function

Blood, 1998-01, Vol.91 (1), p.275-287

1998

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Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of genitopatellar syndrome

American journal of medical genetics. Part A, 2007-05, Vol.143A (10), p.1071-1081

2007

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Chromosomal localization of three human D5 dopamine receptor genes

Genomics (San Diego, Calif.), 1992-08, Vol.13 (4), p.968-973

1992

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Characterization and organization of DNA sequences adjacent to the human telomere associated repeat (TTAGGG)n

Nucleic acids research, 1990-06, Vol.18 (11), p.3353-3361

1990

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Chromosome abnormalities of eighty-one pediatric germ cell tumors: Sex-, age-, site-, and histopathology-related differences-a Children's Cancer Group study

Genes chromosomes & cancer, 1999-06, Vol.25 (2), p.134-146

1999

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Cytogenetic analysis of a hemosiderotic fibrolipomatous tumor

Cancer genetics and cytogenetics, 2008-04, Vol.182 (2), p.140-143

2008

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Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome

The New England journal of medicine, 1984-10, Vol.311 (16), p.1010-1015

1984

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Molecular definition of a region chromosome 21 that causes features of the down syndrome phenotype

American journal of human genetics, 1990-08, Vol.47 (2), p.236-246

1990

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Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1

American journal of human genetics, 1994-07, Vol.55 (1), p.12-20

1994

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Molecular analysis of the Smith-Magenis syndrome : a possible contiguous-gene syndrome associated with del(17)(p11.2)

American journal of human genetics, 1991-12, Vol.49 (6), p.1207-1218

1991

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Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

Angelman syndrome 2005: Updated consensus for diagnostic criteria

Amphetamine, 3,4-Methylenedioxymethamphetamine, Lysergic Acid Diethylamide, and Metabolites of the Catecholamine Neurotransmitters Are Agonists of a Rat Trace Amine Receptor

Hematopathologic and cytogenetic findings in imatinib mesylate–treated chronic myelogenous leukemia patients: 14 months' experience

The impact of clonal evolution on response to imatinib mesylate (STI571) in accelerated phase CML

Y chromosome heterochromatin of differing lengths in two cell populations of the same individual

Specific extra chromosomes occur in a modal number dependent pattern in pediatric acute lymphoblastic leukemia

Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome

SNRPN methylation patterns in germ cell tumors as a reflection of primordial germ cell development

A Common Molecular Basis for Rearrangement Disorders on Chromosome 22q11

DNA Cross-Linker–Induced G2/M Arrest in Group C Fanconi Anemia Lymphoblasts Reflects Normal Checkpoint Function

Meiotic exchange event within the stalk region of an inverted chromosome 22 results in a recombinant chromosome with duplication of the distal long arm

Mosaicism of proximal 15q duplication/deletion resulting in Prader-Willi syndrome with normal methylation

Cytogenetic analysis of a primary bone angiosarcoma

DNA Cross-Linker–Induced G2/M Arrest in Group C Fanconi Anemia Lymphoblasts Reflects Normal Checkpoint Function

Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of genitopatellar syndrome

Chromosomal localization of three human D5 dopamine receptor genes

Characterization and organization of DNA sequences adjacent to the human telomere associated repeat (TTAGGG)n

Chromosome abnormalities of eighty-one pediatric germ cell tumors: Sex-, age-, site-, and histopathology-related differences-a Children's Cancer Group study

Cytogenetic analysis of a hemosiderotic fibrolipomatous tumor

Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome

Molecular definition of a region chromosome 21 that causes features of the down syndrome phenotype

Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1

Molecular analysis of the Smith-Magenis syndrome : a possible contiguous-gene syndrome associated with del(17)(p11.2)

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