Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations. (Q51909807)

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22 December 2019

title

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations (English)

1 reference

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22 December 2019

main subject

whole genome sequencing

1 reference

based on heuristic

inferred from title

author

Ana Cristina Krepischi

1

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22 December 2019

Jeroen Knijnenburg

5

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22 December 2019

Karoly Szuhai

6

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22 December 2019

Chong Ae Kim

15

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22 December 2019

Paulo A Otto

11

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Regina Celia Mingroni Netto

22 December 2019

12

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22 December 2019

Débora R Bertola

16

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22 December 2019

Carla Rosenberg

18

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22 December 2019

author name string

Vianna-Morgante AM

2

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22 December 2019

Jehee FS

3

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22 December 2019

Passos-Bueno MR

4

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22 December 2019

Sloos W

7

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22 December 2019

Mazzeu JF

8

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Kok F

9

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22 December 2019

Cheroki C

10

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22 December 2019

Varela M

13

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22 December 2019

Koiffmann C

14

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22 December 2019

Pearson PL

17

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22 December 2019

publication date

1 January 2006

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Cytogenetics and Genome Research

22 December 2019

published in

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volume

115

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page(s)

254-261

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issue

3-4

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Diagnostic genome profiling in mental retardation

22 December 2019

cites work

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DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones

21 January 2018

1 reference

Detection of large-scale variation in the human genome

21 January 2018

1 reference

Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.

21 January 2018

1 reference

Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

21 January 2018

1 reference

Large-scale copy number polymorphism in the human genome

21 January 2018

1 reference

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

21 January 2018

1 reference

A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient.

21 January 2018

1 reference

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1159/000095922

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22 December 2019

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