(Q40178026)

18 September 2017

1 reference

title

Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis (English)

1 reference

18 September 2017

Chromosome 15 anomalies and the Prader-Willi syndrome: Cytogenetic analysis (English)

1 reference

10 October 2023

main subject

Prader–Willi syndrome

1 reference

inferred from title

human chromosomes 13-15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6373566

10 October 2023

chromosome abnormality

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6373566

10 October 2023

1 reference

10 October 2023

author name string

M. G. Mattei

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6373566

10 October 2023

N. Souiah

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6373566

10 October 2023

J. F. Mattei

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6373566

10 October 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=6373566

10 October 2023

publication date

1 January 1984

1 reference

full work available at URL

18 September 2017

http://link.springer.com/content/pdf/10.1007/BF00287636.pdf

file format

Portable Document Format

1 reference

http://link.springer.com/article/10.1007/BF00287636/fulltext.html

10 October 2023

1 reference

http://link.springer.com/content/pdf/10.1007/BF00287636

10 October 2023

1 reference

10 October 2023

1 reference

18 September 2017

66

1 reference

18 September 2017

313-334

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18 September 2017

4

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00287636

18 September 2017

0 references

cites work

A 15 leads to 1 translocation in a patient mosaic for presence or absence of an isodic(15p)(q11).

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF00287636

A new syndrome resulting from partial trisomy for the distal third of the long arm of chromosome 10

21 January 2018

1 reference

12 December 2020

Partial trisomy of chromosome 21 by maternal translocation t(15;21) (q26.2; q21)

1 reference

12 December 2020

Trisomy 4p. Three new observations (author's transl)

1 reference

12 December 2020

An extra chromosomal centric fragment in an infant with stigmata of Down's syndrome

1 reference

12 December 2020

A bisatellited marker chromosome in a mentally retarded girl with infantile autism

1 reference

12 December 2020

1 reference

12 December 2020

Satellite DNA and heterochromatin variants: The case for unequal mitotic crossing over

1 reference

12 December 2020

16q trisomy in a family with a balanced 15/16 translocation

1 reference

12 December 2020

The 9p- deletion syndrome. A patient with a 45, XX-9, -15, +t(9/15) constitution due to maternal 3:1 meiotic disjunction

1 reference

12 December 2020

Adjacent 2 meiotic disjunction. report of a case resulting from a familial 13q;15q balanced reciprocal translocation and review of the literature

1 reference

12 December 2020

Trisomy 9p : 2 further cases

1 reference

12 December 2020

Chromosome 6/15 translocation with multiple congenital anomalies

1 reference

12 December 2020

The 9p- deletion syndrome. Report of a patient with a 46, XX, 9P- constitution due to a paternal t(9p-;15+) translocation

1 reference

12 December 2020

Y/autosomal translocations

1 reference

12 December 2020

A cytogenetic survey of 14,069 newborn infants. III. an analysis of the significance and cytologic behavior of the Robertsonian and reciprocal translocations

1 reference

12 December 2020

Translocation of a supernumerary Y to a 15: Study of six cases (three males and three females) in three generations

1 reference

12 December 2020

Reciprocal or nonreciprocal human chromosome translocations? The identification of reciprocal translocations by silver staining

1 reference

12 December 2020

Comparison of G-, Q-, and R-banding in 28 cases of chromosomal abnormalities

1 reference

12 December 2020

A Familial Centric Chromosome Fragment

1 reference

12 December 2020

Identification of a D/E(15/18) translocation chromosome by quinacrine fluorescence and Urea banding techniques

1 reference

12 December 2020

Preferential maternal derivation in inv dup(15): analysis of eight new cases.

1 reference

12 December 2020

The occurrence of a ring 18, an accessory bisatellited fragment, and trisomy 21 within one sibship

1 reference

12 December 2020

A new case of rearrangement of chromosome 15 associated with Prader Willi syndrome

1 reference

12 December 2020

Parental origin of de novo chromosome rearrangements

1 reference

12 December 2020

Quantitative and qualitative study of acrocentric associations in 109 normal subjects

1 reference

12 December 2020

A chromosome survey of 2,400 normal newborn infants

1 reference

12 December 2020

X-autosome translocations: cytogenetic characteristics and their consequences

1 reference

12 December 2020

Letter: Partial trisomy 15 as a result of an unbalanced 12/15 translocation in a patient with a cloverleaf skull anomaly

1 reference

12 December 2020

Interstitial deletion of the long arm of chromosome 15

1 reference

12 December 2020

Trisomy 9p resulting from de novo 9/15 translocation and a 9p isochromosome

1 reference

12 December 2020

Possible origin of a small bisatellited additional chromosome

1 reference

12 December 2020

C-bands in seven cases of accessory small chromosomes

1 reference

12 December 2020

A girl with the Prader-Willi syndrome and Robertsonian translocation 45,XX,t(14;15)(p11;q11) which was present in three normal family members

1 reference

12 December 2020

A G-like trisomy with a major 15 proximal supernumerary component derived from a D/E balanced maternal interchange

1 reference

12 December 2020

Two cases of partial trisomy 10q in the same family caused by parental direct insertion [ins. (15;10) (q15;q24q26)]

1 reference

12 December 2020

Partial trisomy of the short arm of chromosome 8 resulting from balanced maternal translocation.

1 reference

12 December 2020

Four cases of 9p trisomy resulting from a balanced familial translocation (9:15) (q13;q11). Clinical picture and cytogenetic findings.

1 reference

12 December 2020

Confirmation of Y/autosome translocations using recombinant DNA

1 reference

12 December 2020

[X-chromosome translocations. Examination based on treatment with BUDR and staining with acridine orange]

1 reference

12 December 2020

Prader-Willi syndrome and translocation 15/15

1 reference

12 December 2020

Demonstration of Y/autosomal translocations using distamycin A

1 reference

12 December 2020

Ribosomal and human-homologous repeated DNA distribution in the orangutan (Pongo pygmaeus). Comparison with distribution of these DNAs in the other species of the Hominidae

1 reference

12 December 2020

Cri-du-chat syndrome in a child with a 5/15 translocation and interstitial centromeric heterochromatin

1 reference

12 December 2020

Modification of DAPI banding on human chromosomes by prestaining with a DNA-binding oligopeptide antibiotic, distamycin A.

1 reference

12 December 2020

Cytogenetic and clinical studies in five cases of inv dup(15)

1 reference

12 December 2020

Significance of detection of extra metacentric microchromosome in amniotic cell culture

1 reference

12 December 2020

Duplication 15q22 to 15qter and its phenotypic expression

1 reference

12 December 2020

Further delineation of the supernumerary chromosome in the Cat-Eye Syndrome

1 reference

12 December 2020

Cytogenetic investigation in 413 couples with spontaneous abortions

1 reference

12 December 2020

Possible autosomal isochromosome in a malformed child

1 reference

12 December 2020

Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases

1 reference

12 December 2020

Familial partial trisomy 15

1 reference

12 December 2020

[Giemsa-R-banding analysis of the trisomy 9p and report of a new case]

1 reference

12 December 2020

Reassessment of presumed Y/22 and Y/15 translocations in man using a new technique

1 reference

12 December 2020

The cytogenetic controversy in the Prader-Labhart-Willi syndrome

1 reference

12 December 2020

A new case of Prader-Willi syndrome with chromosomal aberration.

1 reference

12 December 2020

Congenital heart disease with del(15q) mosaicism

1 reference

12 December 2020

An inherited translocation t(4;15) (p16;q22) leading to two cases of partial trisomy 15

1 reference

12 December 2020

A boy with proximal trisomy 15 and a male foetus with distal trisomy 15 due to a familial 13p;15q translocation

1 reference

12 December 2020

Resolution of breakpoints in a complex rearrangement by use of multiple staining techniques: confirmation of suspected 12p12.3 intraband by deletion dosage effect of LDHB.

1 reference

12 December 2020

Translocations in Prader-Willi syndrome.

1 reference

12 December 2020

Banding patterns and autoradiographic studies of cells with an X-autosome translocation

1 reference

12 December 2020

Deletions of chromosome 15 as a cause of the Prader-Willi syndrome

1 reference

12 December 2020

1 reference

12 December 2020

Partial trisomy 15 in a male with severe psychomotor retardation (48, XY, + 15q -, + mar(15))

1 reference

12 December 2020

Transmission of a small supernumerary chromosome in a family with two cases of 21 trisomy

1 reference

12 December 2020

Primary hypogonadism and 13/15 chromosome translocation in Prader-Labhart-Willi syndrome

1 reference

12 December 2020

A masculinizing syndrome associated with a doubly-satellited extra chromosome

1 reference

12 December 2020

Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring

1 reference

12 December 2020

Inherited 13/14 translocation and meta-centric microchromosome associated with trisomy 21: Report of 2 cases

1 reference

12 December 2020

The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture

1 reference

12 December 2020

Parental origin of chromosome 15 deletion in Prader-Willi syndrome

1 reference

12 December 2020

Partial trisomy for the distal part of the long arm of chromosome 15 due to a balanced maternal X/15 tranlsocation

1 reference

12 December 2020

A double translocation culture t(5;15)t(9;11) with partial deletion of the short arm of chromosome 5. Repository identification No. GM-344

1 reference

12 December 2020

X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci

1 reference

12 December 2020

A chromosome survey of a hospital for the mentally subnormal

1 reference

12 December 2020

15/15 translocation in Prader-Willi syndrome

1 reference

12 December 2020

Robertsonian translocation between the chromosome Y and 15.

1 reference

12 December 2020

Nucleolar organizing regions of human chromosomes

1 reference

12 December 2020

Satellite DNA loss and nucleolar organiser activity in an individual with a de novo chromosome 13,14 translocation

1 reference

12 December 2020

Bisatellited extra small metacentric chromosome in newborns

1 reference

12 December 2020

Trisomy 9p in a patient with a de novo 9/15 translocation

1 reference

12 December 2020

Preferential derivation of abnormal human G-group-like chromosomes from chromosome 15

1 reference

12 December 2020

Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment.

1 reference

12 December 2020

The location of four human satellite DNAs on human chromosomes

1 reference

12 December 2020

Precise identification of various chromosomal abnormalities.

1 reference

12 December 2020

Prader-Willi syndrome and chromosome 15. A clinical discussion of 20 cases

1 reference

12 December 2020

Women heterozygous for deficiency of the (p21 ? pter) region of the X chromosome are fertile

1 reference

12 December 2020

The Prader-Willi syndrome with a 15/15 translocation. Case report and review of the literature

1 reference

12 December 2020

A 13-year-old girl with karyotype 47, XX, +i (22) (qll).

1 reference

12 December 2020

Palindromic base sequences and replication of eukaryote chromosome ends

1 reference

12 December 2020

An analysis of the break points of structural rearrangements in man

1 reference

12 December 2020

Extra dicentric 15 pter leads to q21/22 chromosomes in five unrelated patients with a distinct syndrome of progressive psychomotor retardation, seizures, hyper-reactivity and dermatoglyphic abnormalities.

1 reference

12 December 2020

Chromosome 15 in floppy infants

1 reference

12 December 2020

Dicentric Robertsonian translocation in man. 17 cases studied by R,C, and N banding

1 reference

12 December 2020

A Familial Extra Small Marker Autosome in Persons with Normal Phenotype

1 reference

12 December 2020

Somatic cell genetic assignment of the human gene for mitochondrial NADP-linked isocitrate dehydrogenase to the long arm of chromosome 15

1 reference

12 December 2020

Trisomy 4p in a family with A t(4;15)

1 reference

12 December 2020

Prenatal karyotype analysis in high risk families

1 reference

12 December 2020

1 reference

12 December 2020

Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations

1 reference

12 December 2020

A familial minute isochromosome

1 reference

12 December 2020

Report of a trisomy 8p infant with carrier father

1 reference

12 December 2020

1 reference

12 December 2020

Properties and significance of a small marker chromosome in amniotic fluid cells

1 reference

12 December 2020

Bisatellited dicentric chromosome: a report on a case with karyotype 47,XY, + psu dic(22)t(22;22)(22pter to cen to 22q11::22q11 to 22pter).

1 reference

12 December 2020

Human gene mapping using an X/autosome translocation

1 reference

12 December 2020

[Karyotype-phenotype correlation in a 46,Xdel(X) (p22) diagnosis (author's transl)].

1 reference

12 December 2020

The origin and behavior of two isodicentric bisatellited chromosomes

1 reference

12 December 2020

The elfin face syndrome and the short arm of chromosome 15

1 reference

12 December 2020

Two kinships with accessory bisatellited chromosomes

1 reference

12 December 2020

Autoradiographic studies on X-autosomal translocation in man: 45,X.15-,tan(15qZq+)+

1 reference

12 December 2020

Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)

1 reference

12 December 2020

5-Methylcytosine localised in mammalian constitutive heterochromatin.

1 reference

12 December 2020

Inherited parital duplication deficiency of chromosome 15 (p12;q22)

1 reference

12 December 2020

A case of Prader-Willi syndrome in a girl with a small extra chromosome

1 reference

12 December 2020

Inherited t2q-/15q+ translocation and Down's syndrome

1 reference

12 December 2020

A case of partial trisomy 15

1 reference

12 December 2020

Unexpected structural chromosome rearrangements in prenatal diagnosis

1 reference

12 December 2020

A G-band study of chromosomes in liveborn infants

1 reference

12 December 2020

A case of trisomy 9p in a family with translocation 9/15

1 reference

12 December 2020

Supernumerary bisatellited chromosome in a family ascertained through a patient with Sturge-Weber syndrome

1 reference

12 December 2020

A severely retarded male with deletion of chromosomes 15 (pter leads to q13) and 10 (q 26 leads to qter)

1 reference

12 December 2020

Small accessory chromosomes (SAC) and their genotype--phenotype correlation

1 reference

12 December 2020

Systematic analysis of 95 reciprocal translocations of autosomes

1 reference

12 December 2020

Genetic studies on a minute centric fragment transmitted through three generations

1 reference

12 December 2020

Father and daughter with presumptive isochromosome satellites-short arms D or G

1 reference

12 December 2020

Mental retardation, malformation syndrome andpartial 7p monosomy [45, XX, tdic (7;15) (p21;p11)]

1 reference

12 December 2020

Unstable familial translocations: A t(11;22)mat inherited as a t(11;15)

1 reference

12 December 2020

Cytogenetic findings in 4952 prenatal diagnoses. An Italian collaborative study

1 reference

12 December 2020

Silver staining of the supernumerary chromosome in the cat-eye syndrome

1 reference

12 December 2020

Familial extra centric bisatellited chromosome

1 reference

12 December 2020

Nonrandom distribution of exchange points in patients with structural rearrangements

1 reference

12 December 2020

Trisomy for the short arms of chromosome 9 in two generations, with balanced translocations t(15pplus;9qminus) in three generations

1 reference

12 December 2020

Familial Y-autosome translocation in two unrelated girls.

1 reference

12 December 2020

Tandem translocation 15-13

1 reference

12 December 2020

The Prader-Willi syndrome with a 15/3 translocation

1 reference

12 December 2020

Pericentric inversion of a number 15 chromosome in nine members of one family.

1 reference

12 December 2020

Prader-Willi syndrome and a bisatellited derivative of chromosome 15

1 reference

12 December 2020

A 15/17 translocation in a patient with Prader-Labhart-Willi syndrome

1 reference

12 December 2020

A new case of partial trisomy 15q-

1 reference

12 December 2020

De novo translocation t(Yq-; 15p+) in a malformed boy

1 reference

12 December 2020

Structural variability of human chromosome 9 in relation to its evolution.

1 reference

12 December 2020

The Prader-Willi syndrome and 15-15 translocation

1 reference

12 December 2020

Origin of a paternal (13q;15q) translocation leading to dup(13q) in two half sibs

1 reference

12 December 2020

Nonrandom distribution of exchange points in patients with reciprocal translocations

1 reference

12 December 2020

Recurrence of Down syndrome associated with microchromosome

1 reference

12 December 2020

Partial trisomy 15 and temporal lobe syndrome in a retarded girl without gross malformations

1 reference

12 December 2020

Polymorphism of 5-methylcytosine-rich DNA in human acrocentric chromosomes

1 reference

12 December 2020

Discovery of an inherited bisatellited metacentric microchromosome in amniotic cell culture

1 reference

12 December 2020

Mental retardation associated with "balanced" chromosome rearrangements

1 reference

12 December 2020

Partial 2p trisomy (p21 leads to pter) in two siblings of a family with a 2p-:15q+ translocation

1 reference

12 December 2020

Nucleolus organizer regions in translocations involving acrocentric chromosomes

1 reference

12 December 2020

Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing

1 reference

12 December 2020

(6;15) Translocation with loss of chromosome material in the patient and various chromosome aberrations in family members

1 reference

12 December 2020

Nucleolus organizer activity and the origin of Robertsonian translocations

1 reference

12 December 2020

Balanced translocation t(15q-;16p+) as cause of habitual abortions

1 reference

12 December 2020

Trisomy 8p due to the 3:1 segregation of the balanced translocation t(8;15)mat

1 reference

12 December 2020

Assignment of the structural genes for the ? subunit of hexosaminidase A, mannosephosphate isomerase, and pyruvate kinase to the region q22-qter of human chromosome 15

1 reference

12 December 2020

Population cytogenetic investigation of newborns in Moscow.

1 reference

12 December 2020

Incidence of chromosome aberrations among 11 148 newborn children

1 reference

12 December 2020

[Translocation 46,XX, t(15; 21) (q13; q22,1) in the mother of 2 children with partial trisomy 15 and monosomy 21]

1 reference

12 December 2020

Three interesting cases of Down's syndrome

1 reference

12 December 2020

Further Identification of a D/E Translocation

1 reference

12 December 2020

An aberrant small acrocentric chromosome

1 reference

12 December 2020

A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities

1 reference

12 December 2020

Prenatal detection of an accessory chromosome identified as an inversion duplication (15)

1 reference

12 December 2020

Chiasma distribution, genetic lengths, and recombination fractions: a comparison between chromosomes 15 and 16

1 reference

12 December 2020

A New Case of Trisomy for the Short Arm of No. 9 Chromosome

1 reference

12 December 2020

A supernumerary “G” like chromosome originating from a maternal 13;15 translocation in a nondysmorphic, retarded girl

1 reference

12 December 2020

1 reference

12 December 2020

Results of 538 chromosome studies on patients referred for cytogenetic analysis

1 reference

12 December 2020

A girl with 46, XX, t(1;15) karyotype. Cytogenetic and clinical observations

1 reference

12 December 2020

Prenatal diagnosis of chromosome abnormalities

1 reference

12 December 2020

Inherited partial duplication of chromosome No. 15.

1 reference

12 December 2020

An extra idic(15p)(q11) chromosome in Prader-Willi syndrome

1 reference

12 December 2020

Partial trisomy of chromosome number 15 identified by trypsin-Giemsa banding.

1 reference

12 December 2020

Chromosome abnormalities and male sterility

1 reference

12 December 2020

Prader-Willi syndrome and chromosomal mosaicism 46,XY/47,XY,+mar in two cases

1 reference

12 December 2020

[Maternal translocation t (1; 8; 15) and trisomy 8 qter in her daughter. Genetic counseling]

1 reference

12 December 2020

Preferential fluorescent staining of heterochromatic regions in human chromosomes 9, 15, and the Y by D 287/170

1 reference

12 December 2020

Two familial cases with trisomy 15q dist due to a rcp(5;15)(p14;q21).

1 reference

12 December 2020

A model for determination of the expected numbers of chromosome alterations and break points

1 reference

12 December 2020

A jumping translocation (5p;15q), (8q;15q), and (12q;15q) (author's transl)

1 reference

12 December 2020

Chromosomal findings in 164 couples with repeated spontaneous abortions: with special consideration to prior reproductive history

1 reference

12 December 2020

'Complete 5p' trisomy: 1 case and 19 translocation carriers in 6 generations

1 reference

12 December 2020

Annals of clinical research

4

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142

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10 October 2023

9

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361

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203

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10 October 2023

39

77

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215

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10 October 2023

83

14

275

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1976

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10 October 2023

88

19

509

V Hitrec

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Seasonal variation in the birth of children with aneuploid chromosome abnormalities. Report from the Danish Cytogenetic Central Register

10 October 2023

129

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10 October 2023

154

16

183

DR Romain

1979

1 reference

A complex chromosome rearrangement resulting in trisomy 15q22 to qter

10 October 2023

158

1 reference

10 October 2023

162

17

85

W Schmid

1980

1 reference

Trisomy 4p14 ? 4pter with translocation t(4;15)(p14;p12) in the father

10 October 2023

165

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Journal of mental deficiency research

10 October 2023

219

24

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M Zannotti

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Journal of mental deficiency research

10 October 2023

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10 October 2023

Identifiers

DOI

10.1007/BF00287636

1 reference

Dimensions Publication ID

18 September 2017

0 references

1 reference