[De novo interstitial deletion Del (1) (q24 q32.1) in a malformed child]

Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.

Clinical genetics·2015

Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid.

European journal of medical genetics·2013

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.

Clinical genetics·2012

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation.

Journal of medical genetics·2009

Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: a case report.

Human reproduction (Oxford, England)·2007

Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion.

European journal of medical genetics·2006

Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

Annales de genetique·2004

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

Annales de genetique·2004

Large duplication 4q25-q34 with mild clinical effect.

Annales de genetique·2004

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).

Annales de genetique·2004

Partial trisomy 8q and partial monosomy 18p: a case report.

Annales de genetique·2004

Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.

Annales de genetique·2004

Prenatal findings and postnatal outcomes in cases of closed spinal dysraphism: 10-year two-center cohort study.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2026

Transanal Extrusion of a Cystoperitoneal Shunt Catheter in a Child: A Case Report and Review of the Literature.

Cureus·2026

Cutaneous Tuberculosis in a 22-Day-Old Neonate:A Diagnostic Challenge and Case Report.

Current health sciences journal·2026

Definitions of neonatal Necrotizing Enterocolitis (NEC) in randomised controlled trials: a systematic review.

Journal of perinatology : official journal of the California Perinatal Association·2026

Narrative review of pediatric sepsis and septic shock: update on ultrasound-guided monitoring, diagnostic criteria and treatment.

Medicina intensiva·2026

Incidence, Prevalence, and Clinical Associations of Non-Infectious Pediatric Uveitis in the United States: A TriNetX Database Study.

American journal of ophthalmology·2026

Related Experiment Videos

[De novo interstitial deletion Del (1) (q24 q32.1) in a malformed child]

Related Concept Videos

Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.

Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid.

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation.

Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: a case report.

Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion.

Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

Large duplication 4q25-q34 with mild clinical effect.

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).

Partial trisomy 8q and partial monosomy 18p: a case report.

Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.

Prenatal findings and postnatal outcomes in cases of closed spinal dysraphism: 10-year two-center cohort study.

Transanal Extrusion of a Cystoperitoneal Shunt Catheter in a Child: A Case Report and Review of the Literature.

Cutaneous Tuberculosis in a 22-Day-Old Neonate:A Diagnostic Challenge and Case Report.

Definitions of neonatal Necrotizing Enterocolitis (NEC) in randomised controlled trials: a systematic review.

Narrative review of pediatric sepsis and septic shock: update on ultrasound-guided monitoring, diagnostic criteria and treatment.

Incidence, Prevalence, and Clinical Associations of Non-Infectious Pediatric Uveitis in the United States: A TriNetX Database Study.

Related Experiment Videos

[De novo interstitial deletion Del (1) (q24 q32.1) in a malformed child]

Related Concept Videos

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