Toward the complete genomic map and molecular pathology of human chromosome 4. (Q40673742)

22 September 2017

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title

Toward the complete genomic map and molecular pathology of human chromosome 4. (English)

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22 September 2017

O Riess

1

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22 September 2017

B Winkelmann

series ordinal

2

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22 September 2017

J T Epplen

series ordinal

3

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22 September 2017

publication date

1 July 1994

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22 September 2017

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22 September 2017

volume

94

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22 September 2017

issue

1

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22 September 2017

page(s)

1-18

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Rieger's anomaly and glaucoma associated with partial trisomy 16q. Case report.

22 September 2017

cites work

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Crossref

https://api.crossref.org/works/10.1007%2FBF02272834

Robin sequence and a deficiency of the left forearm in a girl with a deletion of chromosome 4q33-qter

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Chromosomal distribution of 320 genes from a brain cDNA library

1 reference

12 December 2020

Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11.

1 reference

12 December 2020

1 reference

12 December 2020

Interstitial deletion of the short arm of chromosome 4 in a boy with mild psychomotor retardation and dysmorphism

1 reference

12 December 2020

Identification of multiple CpG islands and associated conserved sequences in a candidate region for the Huntington disease gene

1 reference

12 December 2020

Partial deletion of the long arm of chromosome 4: a clinical syndrome.

1 reference

12 December 2020

A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome.

1 reference

12 December 2020

Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion.

1 reference

12 December 2020

Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map.

1 reference

12 December 2020

Deletion of chromosome 4q33 leads to qter. Is it different from 4q31 leads to qter deletion syndrome?

1 reference

12 December 2020

Interstitial deletion, del(4)(q33q35.1), in a mother and two children

1 reference

12 December 2020

Ring chromosome 4 and Wolf syndrome

1 reference

12 December 2020

Characterization of a human chromosome 4 flow-sorted cosmid library

1 reference

12 December 2020

Subtelomeric breakage and chromosome exchange

1 reference

12 December 2020

Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent.

1 reference

12 December 2020

Interstitial and terminal deletions of the long arm of chromosome 4: further delineation of phenotypes

1 reference

12 December 2020

Cloning and comparative mapping of a human chromosome 4-specific alpha satellite DNA sequence

1 reference

12 December 2020

The Wolf-Hirschhorn syndrome in fetuses

1 reference

12 December 2020

Child with deletion of 4q and duplication of 1q.

1 reference

12 December 2020

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

1 reference

12 December 2020

A gene for achondroplasia–hypochondroplasia maps to chromosome 4p

1 reference

12 December 2020

Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome.

1 reference

12 December 2020

Second case report of del(4) (q25q27) and review of the literature

1 reference

12 December 2020

Interstitial deletion of the short arm of chromosome 4

1 reference

12 December 2020

Interstitial deletion of the long arm of chromosome 4

1 reference

12 December 2020

Deletion of short arms of chromosome 4?5 in a child with defects of midline fusion

1 reference

12 December 2020

Del(4)(q33----qter): another case report of a child with mild dysmorphism.

1 reference

12 December 2020

Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a child with multiple congenital abnormalities

1 reference

12 December 2020

A comprehensive genetic linkage map of the human genome. NIH/CEPH Collaborative Mapping Group

1 reference

12 December 2020

Genetic and physical maps of human chromosome 4 based on dinucleotide repeats

1 reference

12 December 2020

Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome

1 reference

12 December 2020

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa

1 reference

12 December 2020

The functional anatomy of basal ganglia disorders

1 reference

12 December 2020

VISIBILITY OF ANTERIOR BORDER-RING OF SCHWALBE IN CONGENITAL CORNEAL ANOMALIES, TUMOURS OF THE LIMBUS AND DENTAL ANOMALIES

1 reference

12 December 2020

The beta subunit of cyclic GMP phosphodiesterase mRNA is deficient in canine rod-cone dysplasia 1

1 reference

12 December 2020

A complex structural rearrangement of chromosome 4 in a woman without phenotypic features of Wolf-Hirschhorn syndrome.

1 reference

12 December 2020

Deletion of a single chromosome band 4q26 in a malformed girl: exclusion of Rieger syndrome associated gene(s) from the 4q26 segment

1 reference

12 December 2020

Wolf-Hirschhorn syndrome associated with an unusual abnormality of chromosome no. 4.

1 reference

12 December 2020

A second-generation linkage map of the human genome

1 reference

12 December 2020

Interstitial deletion of the distal long arm of chromosome 4

1 reference

12 December 2020

Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism

1 reference

12 December 2020

A transcription map of the region containing the Huntington disease gene

1 reference

12 December 2020

A cell hybrid and recombinant DNA library that facilitate identification of polymorphic loci in the vicinity of the Huntington disease gene

1 reference

12 December 2020

Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Reevaluation of the chromosome 4q candidate region for early onset periodontitis

1 reference

12 December 2020

The development of sequence-tagged sites for human chromosome 4.

1 reference

12 December 2020

Systematic generation of sequence-tagged sites for physical mapping of human chromosomes: Application to the mapping of human chromosome 7 using yeast artificial chromosomes

1 reference

12 December 2020

Interstitial deletion of distal chromosome 4p in a patient without classical Wolf-Hirschhorn syndrome.

1 reference

12 December 2020

Interstitial deletion of the short arm of chromosome 4. A phenotype distinct from the Wolf-Hirschhorn syndrome

1 reference

12 December 2020

Interstitial deletion of the long arm of chromosome 4 in a patient with mental retardation and abnormal phenotype

1 reference

12 December 2020

The Rieger syndrome and a chromosome 13 deletion

1 reference

12 December 2020

The gene for achondroplasia maps to the telomeric region of chromosome 4p

1 reference

12 December 2020

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12 December 2020

Location of facioscapulohumeral muscular dystrophy gene on chromosome 4.

1 reference

12 December 2020

Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p 16.3

1 reference

12 December 2020

Hypoplasia of the pulmonary artery in Rieger's Syndrome (author's transl)

1 reference

12 December 2020

A patient with congenital anomalies and a deletion of the long arm of the long arm of chromosome 4 [46,XY,del(4)(q31)]

1 reference

12 December 2020

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

1 reference

12 December 2020

Fluorescence in situ hybridization mapping of human chromosome 19: cytogenetic band location of 540 cosmids and 70 genes or DNA markers

1 reference

12 December 2020

Reiger's syndrome with chromosomal anomaly (report of a case)

1 reference

12 December 2020

Terminal deletion(4)(q33) in a male infant

1 reference

12 December 2020

Chromosomal assignment of 38 human brain expressed sequence tags (ESTs) by analyzing fluorescently labeled PCR products from hybrid cell panels

1 reference

12 December 2020

Interstitial deletion of chromosome 4q diagnosed prenatally

1 reference

12 December 2020

A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation.

1 reference

12 December 2020

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

1 reference

12 December 2020

Exclusion of DNA changes in the beta-subunit of the c-GMP phosphodiesterase gene as the cause for Huntington's disease

1 reference

12 December 2020

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

Interstitial deletion 4q and Rieger syndrome

1 reference

12 December 2020

Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization

1 reference

12 December 2020

Interstitial deletion of the proximal long arm of chromosome 4 associated with father-child incompatibility within the Gc-system: probable reduced gene dosage effect and partial piebald trait

1 reference

12 December 2020

Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome

1 reference

12 December 2020

The human beta-subunit of rod photoreceptor cGMP phosphodiesterase: complete retinal cDNA sequence and evidence for expression in brain

1 reference

12 December 2020

Interstitial deletion of 4(q21q25) in a liveborn male

1 reference

12 December 2020

Single pass sequencing and physical and genetic mapping of human brain cDNAs

1 reference

12 December 2020

A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4.

1 reference

12 December 2020

The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p.

1 reference

12 December 2020

Brief cytogenetic case report: a 4.5-year-old girl with deletion 4q syndrome--de novo, 46,XX, del(4) (pter leads to q31:)

1 reference

12 December 2020

Terminal deletion 4q in a severely retarded boy.

1 reference

12 December 2020

Tentative assignment of piebald trait gene to chromosome band 4q12

1 reference

12 December 2020

Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4

1 reference

12 December 2020

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

1 reference

12 December 2020

The Axenfeld syndrome and the Rieger syndrome

1 reference

12 December 2020

Familial Wolf's syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4;8)(p15.3;p22). Case report, review and risk estimates

1 reference

12 December 2020

Anchored reference loci for comparative genome mapping in mammals.

1 reference

12 December 2020

Synteny mapping in the bovine: genes from human chromosome 4

1 reference

12 December 2020

Chromosomal assignment of the human smg GDP dissociation stimulator gene to human chromosome 4q21-q25.

1 reference

12 December 2020

A taxonomic approach to the del(4p) phenotype

1 reference

12 December 2020

Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse

1 reference

12 December 2020

Wolf-Hirschhorn syndrome owing to 1:3 segregation of a maternal 4;21 translocation.

1 reference

12 December 2020

Pericentric inversion and partial monosomy 4q associated with congenital anomalies

1 reference

12 December 2020

Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations

1 reference

12 December 2020

A new interstitial deletion of 4q (q21.1::q22.1).

1 reference

12 December 2020

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

1 reference

12 December 2020

GABAA receptor beta subunit heterogeneity: functional expression of cloned cDNAs

1 reference

12 December 2020

Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome

1 reference

12 December 2020

Prenatal diagnosis of cystic hygroma and chorioangioma in the Wolf-Hirschhorn syndrome

1 reference

12 December 2020

Structure and sequence of the human alpha-L-iduronidase gene

1 reference

12 December 2020

The Wolf-Hirschhorn syndrome. I. Genetics.

1 reference

12 December 2020

A selective imidazobenzodiazepine antagonist of ethanol in the rat.

1 reference

12 December 2020

A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene

1 reference

12 December 2020

Conserved Synteny between Pig Chromosome 8 and Human Chromosome 4 but Rearranged and Distorted Linkage Maps

1 reference

12 December 2020

Deletion from the long arm of chromosome 4 (46,XX,4q-) associated with congenital anomalies

1 reference

12 December 2020

A genetic linkage map of the mouse: current applications and future prospects

1 reference

12 December 2020

Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits

1 reference

12 December 2020

De novo del(4) (p15.32) with incomplete expression of the Wolf-Hirschhorn syndrome.

1 reference

12 December 2020

Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23

1 reference

12 December 2020

An estimate of the number of genes in the Huntington disease gene region and the identification of 13 transcripts in the 4p16.3 segment

1 reference

12 December 2020

Adenosine-dopamine interactions in the brain

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12 December 2020

Deficiency on the short arms of a chromosome No. 4

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12 December 2020

Piebald trait in a retarded child with interstitial deletion of chromosome 4

1 reference

12 December 2020

Molecular detection of a 4p deletion using PCR-based polymorphisms: a technique for the rapid detection of the Wolf-Hirschhorn syndrome

1 reference

12 December 2020

Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4

1 reference

12 December 2020

Linkage studies and mutation analysis of the PDEB gene in 23 families with Leber congenital amaurosis

1 reference

12 December 2020

A new interstitial deletion of chromosome No. 4 del(4) (q22::q25).

1 reference

12 December 2020

Expressed genes, Alu repeats and polymorphisms in cosmids sequenced from chromosome 4p16.3

1 reference

12 December 2020

The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa

1 reference

12 December 2020

Primate models of movement disorders of basal ganglia origin

1 reference

12 December 2020

Evidence that Rieger syndrome maps to 4q25 or 4q27

1 reference

12 December 2020

Cerebellar GABAA receptor selective for a behavioural alcohol antagonist

1 reference

12 December 2020

Chromosomal assignment of 46 brain cDNAs

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12 December 2020

Importance of a novel GABAA receptor subunit for benzodiazepine pharmacology

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12 December 2020

Molecular analysis of 4p deletion associated with Wolf-Hirschhorn syndrome moving the ?critical segment? towards the telomere

1 reference

12 December 2020

Two children with deletion of the long arm of chromosome 4 with breakpoint at band q33.

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12 December 2020

Prenatal diagnosis and fetal pathology of partial trisomy 20P-monosomy 4P resulting from paternal translocation

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12 December 2020

Rieger's syndrome with pericentric inversion of chromosome 6.

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12 December 2020

Digitized and differentially shaded human chromosome ideograms for genomic applications

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12 December 2020

Parameters of the human genome

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12 December 2020

Human alpha-L-iduronidase: cDNA isolation and expression

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12 December 2020

Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

1 reference

12 December 2020

Human genetic diseases due to codon reiteration: relationship to an evolutionary mechanism

1 reference

12 December 2020

Proximal 4p-deletion: phenotype differs from classical 4p-syndrome

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12 December 2020

Partial deletion of 4p16 band in a ring chromosome and Wolf Syndrome

1 reference

12 December 2020

Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.

1 reference

12 December 2020

A complex rearrangement associated with sex reversal and the Wolf-Hirschhorn syndrome: a cytogenetic and molecular study

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12 December 2020

The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschhorn syndrome.

1 reference

12 December 2020

Structural and functional basis for GABAA receptor heterogeneity.

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12 December 2020

Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene

1 reference

12 December 2020

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

1 reference

12 December 2020

Deletion of short arm of no. 4 (4p-)--a detailed case report

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12 December 2020

A zinc-finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndrome

1 reference

12 December 2020

Sequence and functional expression of the GABA A receptor shows a ligand-gated receptor super-family

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12 December 2020

Renal function studies in an infant with 4p (-) syndrome

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12 December 2020

Identifiers

DOI

10.1007/BF02272834

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Dimensions Publication ID

22 September 2017

1032588813

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