Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome. (Q51737712)

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25 January 2020

title

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome (English)

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9

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19

Norio Niikawa

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16

Akira Kinoshita

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2

Koh-ichiro Yoshiura

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17

Noriko Miyake

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15

Tatsuya Kishino

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10

Yoshimitsu Fukushima

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3

Tatsuro Kondoh

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7

Toshiro Nagai

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4

Hirofumi Ohashi

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8

Nobuhiko Okamoto

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5

Kenji Kurosawa

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1

Hideo Kuniba

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6

Hidefumi Tonoki

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12

Kenji Naritomi

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13

Tadashi Matsumoto

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14

Hiroyuki Moriuchi

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author name string

Tadashi Kaname

series ordinal

11

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Naomichi Matsumoto

series ordinal

18

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publication date

3 April 2009

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Journal of Human Genetics

25 January 2020

published in

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volume

54

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issue

5

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page(s)

304-309

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https://scigraph.springernature.com/pub.10.1038/jhg.2009.30

25 January 2020

exact match

0 references

cites work

Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency

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A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation

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Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients

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Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome.

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Kabuki make-up syndrome: a review

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Kabuki syndrome: a review study of three hundred patients

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Further delineation of Kabuki syndrome in 48 well-defined new individuals.

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Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2.

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7 January 2021

Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41

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7 January 2021

On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS

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7 January 2021

Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome

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7 January 2021

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome

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BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome

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7 January 2021

The C20orf133 gene is disrupted in a patient with Kabuki syndrome

1 reference

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7 January 2021

Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan

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7 January 2021

Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

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7 January 2021

Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome.

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7 January 2021

No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients

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7 January 2021

Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms.

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Oncogenic mutations of ALK kinase in neuroblastoma

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A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays

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Comparison of SYTO9 and SYBR Green I for real-time polymerase chain reaction and investigation of the effect of dye concentration on amplification and DNA melting curve analysis.

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PANTHER: a library of protein families and subfamilies indexed by function

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Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.

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Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays

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