Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations-Reference-Cited by-同舟云学术

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

Published:2006 Issue:3-4 Volume:115 Page:254-261
ISSN:1424-8581
Container-title:Cytogenetic and Genome Research
language:en
Short-container-title:Cytogenet Genome Res

Author:

Krepischi-Santos A.C.V.,Vianna-Morgante A.M.,Jehee F.S.,Passos-Bueno M.R.,Knijnenburg J.,Szuhai K.,Sloos W.,Mazzeu J.F.,Kok F.,Cheroki C.,Otto P.A.,Mingroni-Netto R.C.,Varela M.,Koiffmann C.,Kim C.A.,Bertola D.R.,Pearson P.L.,Rosenberg C.

Publisher

S. Karger AG

Subject

Genetics (clinical),Genetics,Molecular Biology

Reference23 articles.

1. Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion ofWNT-4,RAR-gamma, andRXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women

2. Diagnostic Genome Profiling in Mental Retardation

3. Structural model of the amino propeptide of collagen XI α1 chain with similarity to the LNS domains

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

5. A Sibship with a Neuronal Migration Defect, Cerebellar Hypoplasia and Congenital Lymphedema

Cited by 98 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. KMT2E Haploinsufficiency Manifests Autism-Like Behaviors and Amygdala Neuronal Development Dysfunction in Mice;Molecular Neurobiology;2022-12-19

2. Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature;Journal of Autism and Developmental Disorders;2022-12-11

3. Rare CNVs and Known Genes Linked to Macrocephaly: Review of Genomic Loci and Promising Candidate Genes;Genes;2022-12-04

4. Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease;Genes;2022-06-29

5. Genetics, mechanism, and pathophysiology of 22q11.2 deletion syndrome;The Chromosome 22q11.2 Deletion Syndrome;2022