(Q33904782)

29 July 2017

0 references

Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome (English)

1 reference

29 July 2017

24

Norio Niikawa

1 reference

29 July 2017

Noriko Miyake

1

1 reference

29 July 2017

Naohiro Kurotaki

2

1 reference

29 July 2017

Hirobumi Sugawara

3

1 reference

29 July 2017

Osamu Shimokawa

4

1 reference

29 July 2017

Naoki Harada

5

1 reference

29 July 2017

Tatsuro Kondoh

6

1 reference

29 July 2017

Masato Tsukahara

7

1 reference

29 July 2017

Satoshi Ishikiriyama

8

1 reference

29 July 2017

Tohru Sonoda

9

1 reference

29 July 2017

Yoko Miyoshi

10

1 reference

29 July 2017

Satoru Sakazume

11

1 reference

29 July 2017

Yoshimitsu Fukushima

12

1 reference

29 July 2017

Hirofumi Ohashi

13

1 reference

29 July 2017

Toshiro Nagai

14

1 reference

29 July 2017

Hiroshi Kawame

15

1 reference

29 July 2017

Kenji Kurosawa

16

1 reference

29 July 2017

Mayumi Touyama

17

1 reference

29 July 2017

Takashi Shiihara

18

1 reference

29 July 2017

Nobuhiko Okamoto

19

1 reference

29 July 2017

Junji Nishimoto

20

1 reference

29 July 2017

Ko-ichiro Yoshiura

21

1 reference

29 July 2017

Tohru Ohta

22

1 reference

29 July 2017

Tatsuya Kishino

23

1 reference

29 July 2017

Naomichi Matsumoto

25

1 reference

29 July 2017

language of work or name

English

0 references

publication date

9 April 2003

1 reference

American Journal of Human Genetics

29 July 2017

1 reference

29 July 2017

72

1 reference

29 July 2017

1331-1337

1 reference

29 July 2017

5

1 reference

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180287

Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180287

Haploinsufficiency of NSD1 causes Sotos syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180287

Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180287

Molecular mechanisms for constitutional chromosomal rearrangements in humans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180287

Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180287

Unequal meiotic crossover: a frequent cause of NF1 microdeletions.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180287

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180287

The mechanisms involved in formation of deletions and duplications of 15q11-q13.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180287

De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180287

Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180287

Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180287

Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180287

Exclusive paternal origin of new mutations in Apert syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180287

Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180287

Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180287

Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180287

Sotos syndrome: a study of the diagnostic criteria and natural history

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180287

Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180287

On the parental origin of de novo mutation in man.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180287

Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180287

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180287

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180287

A catalogue of imprinted genes and parent-of-origin effects in humans and animals.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180287

High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180287

Sex-dependent rearrangements resulting in CMT1A and HNPP.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180287

7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180287

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12687502

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12687502

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/375166

1 reference

29 July 2017

1 reference

29 July 2017

1 reference