(Q33737848)

29 July 2017

title

How is the Human Genome Project doing, and what have we learned so far? (English)

1 reference

29 July 2017

2

Collins FS

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29 July 2017

Guyer MS

1

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29 July 2017

publication date

1 November 1995

1 reference

Proceedings of the National Academy of Sciences of the United States of America

29 July 2017

published in

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29 July 2017

volume

92

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29 July 2017

issue

24

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29 July 2017

page(s)

10841-10848

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The latest fashions in skin disease

29 July 2017

cites work

1 reference

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dbEST--database for "expressed sequence tags"

21 June 2018

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A simple and efficient method for constructing high resolution physical maps

21 June 2018

1 reference

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A linkage between DNA markers on the X chromosome and male sexual orientation

21 June 2018

1 reference

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Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

21 June 2018

1 reference

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A first-generation physical map of the human genome

21 June 2018

1 reference

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Efficient selection of 3'-terminal exons from vertebrate DNA.

21 June 2018

1 reference

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Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A

21 June 2018

1 reference

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A new five-year plan for the U.S. Human Genome Project.

21 June 2018

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Application of bacterial artificial chromosomes to the generation of contiguous physical maps: a pilot study of human ryanodine receptor gene (RYR1) region

21 June 2018

1 reference

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Light-generated oligonucleotide arrays for rapid DNA sequence analysis

21 June 2018

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The human T-cell receptor TCRAC/TCRDC (C alpha/C delta) region: organization, sequence, and evolution of 97.6 kb of DNA.

21 June 2018

1 reference

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Constant denaturant capillary electrophoresis (CDCE): a high resolution approach to mutational analysis

21 June 2018

1 reference

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Mutations of the RET proto-oncogene in Hirschsprung's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Time-of-flight mass spectrometry of underivatized single-stranded DNA oligomers by matrix-assisted laser desorption

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Fishing for complements: finding genes by direct selection

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Ultra-high-speed DNA fragment separations using microfabricated capillary array electrophoresis chips

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Assembly of ordered contigs of cosmids selected with YACs of human chromosome 13.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

So many needles, so much hay.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Integration of physical, breakpoint and genetic maps of chromosome 22. Localization of 587 yeast artificial chromosomes with 238 mapped markers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Sequence and Analysis of the Human ABL Gene, the BCR Gene, and Regions Involved in the Philadelphia Chromosomal Translocation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Pairwise end sequencing: a unified approach to genomic mapping and sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

The 1993-94 Généthon human genetic linkage map

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Whole-genome random sequencing and assembly of Haemophilus influenzae Rd

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

21 June 2018

Multiplex DNA Sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

A common language for physical mapping of the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Sequencing of megabase plus DNA by hybridization: theory of the method

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Exon trapping: a genetic screen to identify candidate transcribed sequences in cloned mammalian genomic DNA.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Radiation hybrid mapping: a somatic cell genetic method for constructing high-resolution maps of mammalian chromosomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Complementary DNA sequencing: expressed sequence tags and human genome project

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Rapid DNA sequencing by horizontal ultrathin gel electrophoresis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

DNA sequencing by primer walking with strings of contiguous hexamers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Continuum of overlapping clones spanning the entire human chromosome 21q.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Of mice and men: genetic skin diseases of keratin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

High speed automated DNA sequencing in ultrathin slab gels

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

The human Y chromosome: overlapping DNA clones spanning the euchromatic region

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Positional cloning: let's not call it reverse anymore

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

The spectrum of cystic fibrosis mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Isolation of genes from complex sources of mammalian genomic DNA using exon amplification

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Genomic sequence sampling: a strategy for high resolution sequence-based physical mapping of complex genomes

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Integrated human genome-wide maps constructed using the CEPH reference panel.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

FGFR2 mutations in Pfeiffer syndrome

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

A high-density YAC contig map of human chromosome 22

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

Ordered Shotgun Sequencing, a Strategy for Integrated Mapping and Sequencing of YAC Clones

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

A second-generation YAC contig map of human chromosome 12

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40527

The rise and fall of positional cloning?

30 October 2018

1 reference

12 December 2020

A strategy for sequencing the genome 5 years early

1 reference

12 December 2020

Positional cloning moves from perditional to traditional

1 reference

12 December 2020

Optical mapping of lambda bacteriophage clones using restriction endonucleases

1 reference

12 December 2020

Assessing mapping progress in the Human Genome Project

1 reference

12 December 2020

Consortium plans 'public' map of genome

1 reference

12 December 2020

Criterion for the completeness of large-scale physical maps of DNA

1 reference

12 December 2020

An oligonucleotide hybridization approach to DNA sequencing

1 reference

12 December 2020

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis

1 reference

12 December 2020

Hyping up the letdown gene

1 reference

12 December 2020

An integrated physical map of human chromosome 16

1 reference

12 December 2020

Report of the fourth international workshop on human chromosome 21

1 reference

12 December 2020

Enzyme-linked fluorescent detection for automated multiplex DNA sequencing

1 reference

12 December 2020

A study of the origin of 'shadow bands' seen when typing dinucleotide repeat polymorphisms by the PCR

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.92.24.10841

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29 July 2017

0 references

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29 July 2017

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