(Q47618825)

4 February 2018

title

Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes (English)

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4 February 2018

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Kamnasaran D

1

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O'Brien PC

2

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Schuffenhauer S

3

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Quarrell O

4

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Lupski JR

5

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Grammatico P

6

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Ferguson-Smith MA

7

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Cox DW

8

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publication date

1 August 2001

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4 February 2018

American Journal of Medical Genetics Part A

published in

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4 February 2018

volume

102

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issue

2

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page(s)

173-182

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Basic local alignment search tool

cites work

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Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly

21 January 2018

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De novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partial hemihypoplasia

21 January 2018

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Dual role of brain factor-1 in regulating growth and patterning of the cerebral hemispheres

21 January 2018

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High-resolution DNA Fiber-FISH for genomic DNA mapping and colour bar-coding of large genes

21 January 2018

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Disease genes and chromosomes: disease maps of the human genome. Chromosome 14

21 January 2018

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Construction and characterization of human chromosome 2-specific cosmid, fosmid, and PAC clone libraries

21 January 2018

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Dorsal-ventral patterning defects in the eye of BF-1-deficient mice associated with a restricted loss of shh expression

21 January 2018

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Hepatocyte nuclear factor 3 activates transcription of thyroid transcription factor 1 in respiratory epithelial cells

21 January 2018

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The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary

21 January 2018

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A breakpoint map of recurrent chromosomal rearrangements in human neoplasia

21 January 2018

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Human brain factor 1, a new member of the fork head gene family

21 January 2018

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Cytogenetic findings in adult acute leukemia and myeloproliferative disorders with an involvement of megakaryocyte lineage

21 January 2018

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The DNA-binding specificity of the hepatocyte nuclear factor 3/forkhead domain is influenced by amino-acid residues adjacent to the recognition helix

21 January 2018

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A complex genetic rearrangement in a t(10;14)(q24;q11) associated with T-cell acute lymphoblastic leukemia

21 January 2018

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Absence of mutations in the gene encoding thyroid transcription factor-1 (TTF-1) in patients with thyroid dysgenesis.

21 January 2018

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Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities.

21 January 2018

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Mutation of PAX9 is associated with oligodontia

21 January 2018

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Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion

21 January 2018

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Cytogenetic analysis by chromosome painting using DOP-PCR amplified flow-sorted chromosomes

21 January 2018

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Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

21 January 2018

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Establishment and characteristics of a T-cell acute lymphoblastic leukemia cell line, JK-T1, with a chromosomal translocation between 8q24 and 14q13

21 January 2018

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Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure

21 January 2018

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De novo interstitial proximal deletion of 14q and prenatal diagnosis of holoprosencephaly

21 January 2018

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Confirmation of a suspected 16q deletion in a dysmorphic child by flow karyotype analysis.

21 January 2018

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X chromosome deletions detectable by flow cytometry in some patients with steroid sulphatase deficiency (X-linked ichthyosis)

21 January 2018

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Detection of an unbalanced translocation (4;14) in a mildly retarded father and son by flow cytometry

21 January 2018

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Tetramelic mirror-image polydactyly and a de novo balanced translocation between 2p23.3 and 14q13

21 January 2018

1 reference

Expression of the paired-box genes Pax-1 and Pax-9 in limb skeleton development

21 January 2018

1 reference

A 1.2-megabase BAC/PAC contig spanning the 14q13 breakpoint of t(2; 14) in a mirror-image polydactyly patient

21 January 2018

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Unbalanced karyotype, dup 14(q13-q22), in a mother and her two children.

21 January 2018

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Twin pregnancy discordant for trisomy 14 mosaicism: prenatal sonographic findings

21 January 2018

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De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJMG.1418

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4 February 2018

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4 February 2018