Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies

Birth prevalence of Robin sequence in the Netherlands from 2000-2010: a retrospective population-based study in a large Dutch cohort and review of the literature

(2015) Emma C. Paes et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Dissecting the phenotype of supernumerary marker chromosome 20 in a patient with syndromic pierre robin sequence: Combinatorial effect of gene dosage and uniparental disomy

(2015) Kosuke Izumi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Etiology and pathogenesis of robin sequence in a large Dutch cohort

(2015) Hanneke Basart et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Further supporting evidence for theSATB2-associated syndrome found through whole exome sequencing

(2015) Yuri A. Zarate et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX

(2014) Morad Ansari et al.   European Journal of Medical Genetics

Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia

(2014) Lauren C. Walters-Sen et al.   European Journal of Medical Genetics

Regional variations in the presentation and surgical management of Pierre Robin sequence

(2014) Andrew R. Scott et al.   LARYNGOSCOPE

Robin Sequence

(2014) Melinda A. Costa et al.   PLASTIC AND RECONSTRUCTIVE SURGERY

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

(2014) Mingran Sun et al.   Molecular Cytogenetics

Familial Microdeletion of 17q24.3 Upstream ofSOX9Is Associated With Isolated Pierre Robin Sequence Due to Position Effect

(2013) Ina E. Amarillo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Developmental and genetic perspectives on Pierre Robin sequence

(2013) Tiong Yang Tan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence

(2013) J. K. Rainger et al.   HUMAN MOLECULAR GENETICS

Outcomes Analysis of Mandibular Distraction Osteogenesis for the Treatment of Pierre Robin Sequence

(2013) Kariuki P. Murage et al.   PLASTIC AND RECONSTRUCTIVE SURGERY

Complex genomic rearrangement in theSOX95′ region in a patient with Pierre Robin sequence and hypoplastic left scapula

(2012) Maki Fukami et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Variability in expression of a familial 2.79 Mb microdeletion in chromosome14q22.1-22.2

(2012) Aimé Lumaka et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

1.9 Mb microdeletion of 21q22.11 within Braddock-Carey contiguous gene deletion syndrome region: Dissecting the phenotype

(2012) Kosuke Izumi 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

Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH

(2011) Edith Said et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate

(2011) Trilochan Sahoo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Mandibular distraction in the setting of chromosome 4q deletion

(2011) Peter J. Taub et al.   Journal of Plastic Reconstructive and Aesthetic Surgery

Robin Sequence: From Diagnosis to Development of an Effective Management Plan

(2011) K. N. Evans et al.   PEDIATRICS

18q22.3 → 18q23 deletion syndrome and cleft palate

(2010) James D. Eudy et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De novo interstitial deletion 16(q12. 1q13) of paternal origin in a 10-year-old boy

(2010) Simone Schuffenhauer et al.   CLINICAL GENETICS

Neonatal Outcomes of Pierre Robin Sequence: An Institutional Experience

(2010) Hanny T. Al-Samkari et al.   CLINICAL PEDIATRICS

Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature

(2009) Michael R. Rossi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Pierre Robin sequence: appearances and 25 years of experience with an innovative treatment protocol

(2009) Kurt-W. Bütow et al.   JOURNAL OF PEDIATRIC SURGERY

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

(2009) Sabina Benko et al.   NATURE GENETICS

Airway interventions in children with Pierre Robin Sequence

(2008) Abby C. Meyer et al.   OTOLARYNGOLOGY-HEAD AND NECK SURGERY

Distal del(4) (q33) syndrome: Detailed clinical presentation and molecular description with array-CGH

(2007) Sofia Kitsiou-Tzeli et al.   European Journal of Medical Genetics