(Q28394993)

17

Isabelle Nanni-Metellus

0 references

Vincent Bours

28

Vincent Bours

0 references

Jean-Hubert Caberg

4

Jean-Hubert Caberg

0 references

Marie-Lise Jaffrain-Rea

13

Marie-Lise Jaffrain-Rea

0 references

Thomas Cuny

Thomas Cuny

10

0 references

Giampaolo Trivellin

Giampaolo Trivellin

5

0 references

Daniel L Metzger

Daniel Metzger

9

0 references

Adrian F. Daly

Adrian F Daly

1

0 references

Constantine A Stratakis

30

Constantine A Stratakis

0 references

Wouter W de Herder

7

Wouter W de Herder

0 references

James R. Lupski

29

James R Lupski

0 references

Fabio R Faucz

Fabio R Faucz

15

1 reference

ORCID Public Data File 2021

Sebastian J C M M Neggers

23

Sebastian J Neggers

0 references

Ammar Muhammad

19

Ammar Muhammad

0 references

Emilie Castermans

16

Emilie Castermans

0 references

Leonor Palmeira

20

Leonor Palmeira

0 references

author name string

Bo Yuan

2

0 references

Frederic Fina

3

0 references

Jean-Hubert Caberg

4

0 references

Liliya Rostomyan

6

0 references

Luciana A Naves

8

0 references

Wolfgang Rabl

11

0 references

Nalini Shah

12

0 references

Marie-Lise Jaffrain-Rea

13

0 references

Maria Chiara Zatelli

14

0 references

Maya Lodish

18

0 references

Iulia Potorac

21

0 references

Giovanna Mantovani

22

0 references

Marc Klein

24

0 references

Anne Barlier

25

0 references

Pengfei Liu

26

0 references

Albert Beckers

Somatic mosaicism: implications for disease and transmission genetics

31

0 references

language of work or name

English

0 references

publication date

April 2016

0 references

published in

Endocrine-Related Cancer

0 references

volume

23

0 references

issue

4

0 references

page(s)

221-33

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Somatic mutation, genomic variation, and neurological disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Detectable clonal mosaicism and its relationship to aging and cancer

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

High-throughput droplet digital PCR system for absolute quantitation of DNA copy number

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

GHRH excess and blockade in X-LAG syndrome.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Translesion Polymerases Drive Microhomology-Mediated Break-Induced Replication Leading to Complex Chromosomal Rearrangements

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Timing, rates and spectra of human germline mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Familial isolated pituitary adenomas (FIPA) and mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

X-linked acrogigantism syndrome: clinical profile and therapeutic responses

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Large multiallelic copy number variations in humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Somatic mutations in cerebral cortical malformations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

McCune-Albright syndrome: a detailed pathological and genetic analysis of disease effects in an adult patient

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Passage number is a major contributor to genomic structural variations in mouse iPSCs

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Genetics. Genome mosaicism--one human, multiple genomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Acromegaly induced by ectopic secretion of GHRH: a review 30 years after GHRH discovery

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

An activating mutation of AKT2 and human hypoglycemia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Detection of clinically relevant exonic copy-number changes by array CGH.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Taking qPCR to a higher level: Analysis of CNV reveals the power of high throughput qPCR to enhance quantitative resolution

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Understanding the multifactorial control of growth hormone release by somatotropes: lessons from comparative endocrinology.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

A microhomology-mediated break-induced replication model for the origin of human copy number variation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Characterization of Gpr101 expression and G-protein coupling selectivity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Biological basis of germline mutation: comparisons of spontaneous germline mutation rates among drosophila, mouse, and human

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Somatic activation of AKT3 causes hemispheric developmental brain malformations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Pituitary adenomas in mice transgenic for growth hormone-releasing hormone

2 June 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

2 June 2018

https://pubmed.ncbi.nlm.nih.gov/26935837

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

GPR101 Mutations are not a Frequent Cause of Congenital Isolated Growth Hormone Deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

High rate of mosaicism in individuals with Cornelia de Lange syndrome.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Dramatic Pituitary Hyperplasia in Transgenic Mice Expressing a Human Growth Hormone-Releasing Factor Gene

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4877443

Detection of low-level mosaicism by array CGH in routine diagnostic specimens

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26935837

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26935837