Detection of clinically relevant exonic copy-number changes by array CGH. (Q35172112)

6 August 2017

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

1 reference

6 August 2017

22

1 reference

6 August 2017

Philip M Boone

1

0 references

Chad Shaw

object named as

Chad A Shaw

3

0 references

James R. Lupski

32

object named as

James R Lupski

1 reference

6 August 2017

8

Yaping Yang

1 reference

6 August 2017

34

Pawel Stankiewicz

1 reference

6 August 2017

2

Carlos A Bacino

1 reference

6 August 2017

10

Beata A Nowakowska

1 reference

6 August 2017

21

Fernando Scaglia

1 reference

6 August 2017

31

Ankita Patel

1 reference

6 August 2017

27

Seema R Lalani

1 reference

6 August 2017

14

LaDonna L Immken

1 reference

6 August 2017

7

Sung-Hae L Kang

1 reference

6 August 2017

4

Patricia A Eng

1 reference

6 August 2017

33

Sau Wai Cheung

1 reference

6 August 2017

12

Zhilian Xia

1 reference

6 August 2017

Patricia M Hixson

5

1 reference

6 August 2017

Amber N Pursley

6

1 reference

6 August 2017

Joanna Wiszniewska

9

1 reference

6 August 2017

Daniela del Gaudio

11

1 reference

6 August 2017

Gayle Simpson-Patel

13

1 reference

6 August 2017

James B Gibson

15

1 reference

6 August 2017

Anne C-H Tsai

16

1 reference

6 August 2017

Jennifer A Bowers

17

1 reference

6 August 2017

Tyler E Reimschisel

18

1 reference

6 August 2017

Christian P Schaaf

19

1 reference

6 August 2017

Lorraine Potocki

20

1 reference

6 August 2017

Maciej Sykulski

23

1 reference

6 August 2017

Magdalena Bartnik

24

1 reference

6 August 2017

Katarzyna Derwinska

25

1 reference

6 August 2017

Barbara Wisniowiecka-Kowalnik

26

1 reference

6 August 2017

Frank J Probst

28

1 reference

6 August 2017

Weimin Bi

29

1 reference

6 August 2017

Arthur L Beaudet

30

1 reference

6 August 2017

2 November 2010

1 reference

6 August 2017

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6 August 2017

31

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6 August 2017

1326-1342

1 reference

6 August 2017

12

1 reference

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.

6 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Structural variation in the human genome and its role in disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Origins and functional impact of copy number variation in the human genome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Mechanisms of change in gene copy number

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Complex human chromosomal and genomic rearrangements

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Duplication hotspots, rare genomic disorders, and common disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Genomic disorders ten years on.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Human copy number polymorphic genes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Mechanisms for human genomic rearrangements

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Microarray-based mutation detection in the dystrophin gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Alternative splicing in colon, bladder, and prostate cancer identified by exon array analysis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Alternative splicing events identified in human embryonic stem cells and neural progenitors

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Exon arrays provide accurate assessments of gene expression

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Discovery of tissue-specific exons using comprehensive human exon microarrays

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Alternative splicing and differential gene expression in colon cancer detected by a whole genome exon array.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Global variation in copy number in the human genome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Expression of distinct classes of titin isoforms in striated and smooth muscles by alternative splicing, and their conserved interaction with filamins

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

DHHC9 and GCP16 constitute a human protein fatty acyltransferase with specificity for H- and N-Ras

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Detection of large-scale variation in the human genome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Large-scale copy number polymorphism in the human genome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Germline mutation of the tumour suppressor PTEN in Proteus syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Molecular mechanisms for genomic disorders

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Genome architecture, rearrangements and genomic disorders

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Germline mutations in PTEN are present in Bannayan-Zonana syndrome.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

An autosomal dominant syndrome of renal and anogenital malformations with syndactyly.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Expression of the familial hypercholesterolemia gene in heterozygotes: mechanism for a dominant disorder in man.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Splenic syndrome at mountain altitudes in sickle cell trait. Its occurrence in nonblack persons

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Sickle-cell trait as a risk factor for sudden death in physical training

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

The chimeric gene linked to glucocorticoid-suppressible hyperaldosteronism encodes a fused P-450 protein possessing aldosterone synthase activity

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

A chimaeric llβ-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

PTEN mutations are uncommon in Proteus syndrome.

28 July 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21360

Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21360

Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21360

Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21360

Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21360

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21360

Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21360

Cerebral folate deficiency with developmental delay, autism, and response to folinic acid

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21360

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21360

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21360

Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21360

Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21360

Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21360

An ABCA4 genomic deletion in patients with Stargardt disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21360

Deletion of 19 base pairs in intron 13 of the gene for the pro alpha 2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21360

HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

Disruption of the SCN2A and SCN3A genes in a patient with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizures.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3158569

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

27 September 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21360

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21360

Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21360

Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications

21 January 2018

1 reference

12 December 2020

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome

1 reference

12 December 2020

Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

1 reference

12 December 2020

PTEN mutations and proteus syndrome

1 reference

12 December 2020

An atypical intronic deletion widens the spectrum of mutations in hereditary spastic paraplegia

1 reference

12 December 2020

Structural variation in the human genome

1 reference

12 December 2020

Nonsense-associated altered splicing: a frame-dependent response distinct from nonsense-mediated decay

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.21360

1 reference

6 August 2017

1 reference

6 August 2017

1 reference