Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Trisomy of the short arm of chromosome 5: autopsy data in a malformed newborn with inv dup (5)(p13.1 → p15.3)

(2010) A. Kleczkowska et al.   CLINICAL GENETICS

Familial partial trisomy 5p resulting from segregation of an insertional translocation

(2010) Karl-Henrik Gustavson et al.   CLINICAL GENETICS

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

(2010) Aimée DC Paulussen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

(2010) Angela L Duker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Prenatal detection of cryptic rearrangements by multiplex ligation probe amplification in fetuses with ultrasound abnormalities

(2010) Carole Goumy et al.   GENETICS IN MEDICINE

The Nance–Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology

(2010) Simon P. Brooks et al.   HUMAN MOLECULAR GENETICS

Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis

(2010) B. H. W. Faas et al.   JOURNAL OF MEDICAL GENETICS

Hotspots of Large Rare Deletions in the Human Genome

(2010) W. Edward C. Bradley et al.   PLoS One

Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis

(2010) S. C. Hillman et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH

(2010) Nicholas J Neill et al.   Molecular Cytogenetics

Array Comparative Genomic Hybridization in Prenatal Diagnosis: Another Experience

(2009) F. Vialard et al.   FETAL DIAGNOSIS AND THERAPY

Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects

(2009) Gurdeep S Sagoo et al.   GENETICS IN MEDICINE

Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: An updated map of candidate loci

(2009) Claude Bendavid et al.   HUMAN MUTATION

High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings

(2009) M Tyreman et al.   JOURNAL OF MEDICAL GENETICS

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements

(2009) B. I. Dimitrov et al.   JOURNAL OF MEDICAL GENETICS

Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray

(2009) Justine Coppinger et al.   PRENATAL DIAGNOSIS

Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype

(2009) Linda Kleeman et al.   PRENATAL DIAGNOSIS

The association of split hand foot malformation (SHFM) and congenital heart defects

(2008) Alison M. Elliott et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Haploinsufficiency of Six3 Fails to Activate Sonic hedgehog Expression in the Ventral Forebrain and Causes Holoprosencephaly

(2008) Xin Geng et al.   DEVELOPMENTAL CELL

Gene dosage methods as diagnostic tools for the identification of chromosome abnormalities

(2008) L. Gouas et al.   PATHOLOGIE BIOLOGIE

Urinary retention in a boy with terminal deletion of chromosome 10q at band 26.1

(2008) Osamu Motoyama et al.   PEDIATRICS INTERNATIONAL

Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens

(2008) Lisa G. Shaffer et al.   PRENATAL DIAGNOSIS

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

(2008) Ignatia B. Van den Veyver et al.   PRENATAL DIAGNOSIS