16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance

Complex small supernumerary marker chromosomes – an update

(2013) Thomas Liehr et al.   Molecular Cytogenetics

Clinical and molecular delineation of 16p13.3 duplication in a patient with congenital heart defect and multiple congenital anomalies

(2012) Jin-Lan Chen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature

(2012) Tom B Davidson et al.   BMC Medical Genetics

A microduplication of the Rubinstein–Taybi region on 16p13.3 in a girl with a bilateral complete cleft lip and palate and severe mental retardation

(2012) Beyhan Tüysüz et al.   CLINICAL DYSMORPHOLOGY

Interstitial 16p13.3 microduplication: Case report and critical review of genotype–phenotype correlation

(2012) Teresa Mattina et al.   European Journal of Medical Genetics

Duplication 16p13.3 and the CREBBP gene: Confirmation of the phenotype

(2012) Bénédicte Demeer et al.   European Journal of Medical Genetics

Mechanisms of ring chromosome formation, ring instability and clinical consequences

(2011) Roberta S Guilherme et al.   BMC Medical Genetics

Underlying Genetic Diagnosis of Pierre Robin Sequence: Retrospective Chart Review at Two Children’s Hospitals and a Systematic Literature Review

(2011) Kosuke Izumi et al.   JOURNAL OF PEDIATRICS

Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis

(2011) Diane Van Opstal et al.   Molecular Cytogenetics

Common recurrent microduplication syndromes: Diagnosis and management in clinical practice

(2010) Jonathan S. Berg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Expanding the phenotype of duplication of the Rubinstein–Taybi region on 16p13.3

(2009) Bruno Dallapiccola et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

(2009) B. Thienpont et al.   JOURNAL OF MEDICAL GENETICS

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

(2009) Sabina Benko et al.   NATURE GENETICS