(Q39337194)

11 September 2017

1 reference

title

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

1 reference

reason for deprecated rank

11 September 2017

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

marking inconsistent with the registered/official identifier/name

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A50268

7 April 2022

author name string

J. Kunze

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A50268

7 April 2022

M. Tolksdorf

0 references

H. R. Wiedemann

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A50268

7 April 2022

language of work or name

German

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=50268

7 April 2022

publication date

1 January 1975

1 reference

11 September 2017

1 reference

11 September 2017

26

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11 September 2017

4

1 reference

11 September 2017

271-289

1 reference

A Familial Centric Chromosome Fragment

11 September 2017

1 reference

12 December 2020

Multiple anomalies associated with an extra small metacentric chromosome: modified Giemsa stain results

1 reference

12 December 2020

"Cat eye" syndrome with normal chromosomes

1 reference

12 December 2020

A new polydactyly-imperforate-anus-vertebral-anomalies syndrome?

1 reference

12 December 2020

Ocular abnormality associated with extra small autosome.

1 reference

12 December 2020

Cat-eye syndrome, a partial trisomy 22

1 reference

12 December 2020

A newborn with the cat-eye syndrome

1 reference

12 December 2020

A new polydactyly/imperforate-anus/vertebral-anomalies syndrome

1 reference

12 December 2020

CHROMOSOMES IN COLOBOMA AND ANAL ATRESIA

1 reference

12 December 2020

Two kinships with accessory bisatellited chromosomes

1 reference

12 December 2020

Pätau syndrome with trisomy D 1 and D/D translocation

1 reference

12 December 2020

Additional small acrocentric chromosome: two cases

1 reference

12 December 2020

Report of five unrelated patients with a small, metacentric, extra chromosome or fragment

1 reference

12 December 2020

Dermatoglyphics and chromosomes in cat-eye syndrome.

1 reference

12 December 2020

A PROBABLE CASE OF INCOMPLETE TRISOMY OF A CHROMOSOME OF THE 13-15 GROUP

1 reference

12 December 2020

An extra small metacentric chromosome in association with multiple congenital abnormalities

1 reference

12 December 2020

The Holt-Oram syndrome with previously undescribed associated anomalies

1 reference

12 December 2020

Chromosome findings in 700 children referred to a psychiatric clinic

1 reference

12 December 2020

Genetic studies on a minute centric fragment transmitted through three generations

1 reference

12 December 2020

Two cases of multiple malformations with an autosomal chromosomal aberration- partial trisomy D?

1 reference

12 December 2020

Familial heart disease with skeletal malformations

1 reference

12 December 2020

"Cat eye" syndrome with normal chromosomes

1 reference

12 December 2020

Anal atresia, eye anomalies, and an additional small abnormal acrocentric chromosome (47,XX,mar+): report of a case

1 reference

12 December 2020

Extra chromosome in "cat eye" syndrome

1 reference

12 December 2020

A new syndrome of dysmorphogenesis: imperforate-anus associated with poly-oligodactyly and skeletal (mainly vertebral) anomalies

1 reference

12 December 2020

An inherited small extra chromosome: a mother with 46,XX,t(17;22)(pl;ql) and a son with 47,XY,+der(22)mat

1 reference

12 December 2020

Chromosome preparations of leukocytes cultured from human peripheral blood

1 reference

12 December 2020

The syndrome of the metacentric microchromosome.

1 reference

12 December 2020

An aberrant small acrocentric chromosome

1 reference

12 December 2020

DNA REPLICATION PATTERNS OF HUMAN CHROMOSOMES

1 reference

12 December 2020

Additional G-like chromosome in a malformed boy

1 reference

12 December 2020

Pericentric inversions. Report on two malformation cases suggestive of parental inversion heterozygosity

1 reference

12 December 2020

The cat-eye syndrome. Review and two further cases occurring in female siblings with normal chromosomes

1 reference

12 December 2020

Chromosome studies in 5,049 consecutive newborn children

1 reference

12 December 2020

Dermatoglyphics and chromosomes in cat-eye syndrome

1 reference

12 December 2020

Identification of human chromosomes by DNA-binding fluorescent agents

1 reference

12 December 2020

Three non-mongoloid patients of similar phenotype with an extra G-like chromosome

1 reference

12 December 2020

Staining of some specific regions of human chromosomes, particularly the secondary constriction of No. 9.

1 reference

12 December 2020

Probable trisomy 22 identified by fluorescent and trypsin-giemsa banding

1 reference

12 December 2020

[Two observations on the genetics of atresia ani.]

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

A simple technique for demonstrating centromeric heterochromatin

1 reference

12 December 2020

[Case of a mentally retarded and polymalformed child whose karyotype shows the presence of a small mediocentric extra chromosome]

1 reference

12 December 2020

Partial D-1 trisomy--a rare chromosome abnormality

1 reference

12 December 2020

A familial minute isochromosome

1 reference

12 December 2020

Ribosomal DNA sites in a metacentric chromosome fragment.

1 reference

12 December 2020

Trisomy 22: A clinical entity

1 reference

12 December 2020

A chromosome survey of 2,400 normal newborn infants

1 reference

12 December 2020

A masculinizing syndrome associated with a doubly-satellited extra chromosome

1 reference

12 December 2020

[Malformations of the vagina and rectum associated to chromosomic anomaly (47, XX, ?G+)]

1 reference

12 December 2020

MENTAL RETARDATION AND MULTPLE CONGENITAL ANOMALIES: ASSOCIATION WITH EXTRA SMALL METACENTRIC CHROMOSOME.

1 reference

12 December 2020

Translocations of D chromosomes in two families: t(13q14q) and t(13q14q)+(13p14p)

1 reference

12 December 2020

Familial extra centric bisatellited chromosome

1 reference

12 December 2020

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

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

Congenital Cardiac Disease and the "Cat Eye" Syndrome

1 reference

12 December 2020

An unusual syndrome: colobomatous disorder of the eyeball, anal atresia, multiple congenital anomalies and presence of an extra chromosome

1 reference

12 December 2020

CHROMOSOMES MOSAICISM IN A MONGOL BORN TO A YOUNG MOTHER

1 reference

12 December 2020

Identifiers

1 reference