Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis (Q33749963)

29 July 2017

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title

Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis (English)

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29 July 2017

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Heilstedt HA

1

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29 July 2017

Shapira SK

series ordinal

2

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29 July 2017

Gregg AR

series ordinal

3

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29 July 2017

Shaffer LG

series ordinal

4

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29 July 2017

1 August 1999

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29 July 2017

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29 July 2017

56

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29 July 2017

2

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29 July 2017

123-128

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Tandem dup (1p) within the short arm of chromosome 1 in a child with ambiguous genitalia and multiple congenital anomalies

29 July 2017

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560205.X

[Familial chromosome translocation (1;5;15) as a cause of partial trisomy 1p]

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560205.X

Direct duplication of chromosome 1, dir dup(1)(p21.2----p32) in a Bedouin boy with multiple congenital anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560205.X

Familial partial duplication (1)(p21p31).

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560205.X

A presumptive translocation 1p;2q resulting in duplication 1p and deletion 2q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560205.X

Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560205.X

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560205.X

Syndromal and nonsyndromal primary trigonocephaly: analysis of a series of 237 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560205.X

Two craniosynostotic patients with 11q deletions, and review of 48 cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560205.X

Terminal 7p deletion and 1;7 translocation associated with craniosynostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560205.X

Two patients with duplication of 17p11.2: the reciprocal of the Smith-Magenis syndrome deletion?

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560205.X

DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560205.X

Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560205.X

Segregation of a paternal insertional translocation results in partial 4q monosomy or 4q trisomy in two siblings

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560205.X

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560205.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560205.X

7 January 2021

Cytogenetic recognition of chromosomal duplication [dup(l)(p31.4 -? p22.1)] and the detection of three different alleles at the PGM1locus

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560205.X

7 January 2021

Interstitial Dup(1p) with findings of Kabuki make-up syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560205.X

7 January 2021

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560205.X

7 January 2021

10.1034/J.1399-0004.1999.560205.X

Identifiers

DOI

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29 July 2017

1 reference