(Q39503696)

12 September 2017

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title

Contiguous gene syndromes: a component of recognizable syndromes (English)

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12 September 2017

Schmickel RD

1

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12 September 2017

language of work or name

English

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publication date

1 August 1986

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The Journal of Pediatrics

12 September 2017

published in

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12 September 2017

volume

109

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12 September 2017

issue

2

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12 September 2017

page(s)

231-241

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Heritable diseases of collagen

12 September 2017

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1 reference

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Cranial defects in the Goldenhar syndrome

7 January 2021

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Prader-Willi syndrome. Variable severity and recurrence risk

7 January 2021

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

7 January 2021

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Clinical and cytogenetic studies of the Prader-Willi syndrome: evidence of phenotype-karyotype correlation

7 January 2021

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The spectrum of the DiGeorge syndrome

7 January 2021

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Spectrum of the DiGeorge "syndrome"

7 January 2021

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The association of the DiGeorge anomalad with partial monosomy of chromosome 22.

7 January 2021

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Familial DiGeorge syndrome and associated partial monosomy of chromosome 22

7 January 2021

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In situ hybridization and translocation breakpoint mapping. III. DiGeorge syndrome with partial monosomy of chromosome 22

7 January 2021

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The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities?

7 January 2021

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Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22)

7 January 2021

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Langer-Giedion syndrome and deletion of the long arm of chromosome 8

7 January 2021

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"Microcytogenetics" and Langer-Giedion syndrome.

7 January 2021

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Langer-Giedion syndrome with interstitial 8q-deletion

7 January 2021

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Langer-Giedion syndrome with and without del 8q. assignment of critical segment to 8q23

7 January 2021

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Langer-Giedion syndrome, in a child with complex structural aberration of chromosome 8

7 January 2021

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Two cases of the Langer-Giedion syndrome with the same interstitial deletion of the long arm of chromosome 8: 46,XY or XX,del(8)(q23.3q24.13)

7 January 2021

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No chromosome deletion found on prometaphase banding in two cases of Langer-Giedion syndrome

7 January 2021

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Miller-Dieker syndrome: lissencephaly and monosomy 17p.

7 January 2021

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New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.

7 January 2021

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A spectrum of gyral anomalies in Miller-Dieker (lissencephaly) syndrome

7 January 2021

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Location of the retinoblastoma susceptibility gene(s) and the human esterase D locus.

7 January 2021

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Patient with 13 Chromosome Deletion: Evidence That the Retinoblastoma Gene Is a Recessive Cancer Gene

7 January 2021

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Mutation and cancer: statistical study of retinoblastoma

7 January 2021

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Expression of recessive alleles by chromosomal mechanisms in retinoblastoma

7 January 2021

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Retinoblastoma: Clues to Human Oncogenesis

7 January 2021

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ASSOCIATION OF WILMS'S TUMOR WITH ANIRIDIA, HEMIHYPERTROPHY AND OTHER CONGENITAL MALFORMATIONS

7 January 2021

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Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13.

7 January 2021

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Wilms tumor with aniridia/iris dysplasia and apparently normal chromosomes

7 January 2021

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Association of del(11)(p15.1p12), aniridia, catalase deficiency, and cardiomyopathy

7 January 2021

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Del11p13/nephroblastoma without aniridia

7 January 2021

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Regional mapping of catalase and Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305----p1306.

7 January 2021

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Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor

7 January 2021

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Loss of alleles at loci on human chromosome 11 during genesis of Wilms' tumour

7 January 2021

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Development of homozygosity for chromosome 11p markers in Wilms' tumour

7 January 2021

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Somatic deletion and duplication of genes on chromosome 11 in Wilms' tumours.

7 January 2021

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Chromosome number 11 and Wilms' tumor

7 January 2021

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Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases.

7 January 2021

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A polymorphic DNA marker genetically linked to Huntington's disease

7 January 2021

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A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7.

7 January 2021

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Localization of cystic fibrosis locus to human chromosome 7cen–q22

7 January 2021

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Chromosome translocations and human cancer

7 January 2021

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Philadelphia chromosomal breakpoints are clustered within a limited region, bcr, on chromosome 22

7 January 2021

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Aarskog syndrome: full male and female expression associated with an X-autosome translocation

7 January 2021

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The homeo box: A key to the understanding of development?

7 January 2021

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The engrailed locus of Drosophila: structural analysis of an embryonic transcript

7 January 2021

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Human DNA sequences homologous to a protein coding region conserved between homeotic genes of Drosophila

7 January 2021

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Thinking in one dimension: the impact of molecular biology on development

7 January 2021

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Genetic diseases: diagnosis by restriction endonuclease analysis

7 January 2021

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10.1016/S0022-3476(86)80377-8

7 January 2021

Identifiers

DOI

1 reference

12 September 2017

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