Expanding the phenotype associated with 17q12 duplication: Case report and review of the literature

A 17q12 chromosomal duplication associated with renal disease and esophageal atresia

(2011) Stanislas Faguer et al.   European Journal of Medical Genetics

Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH

(2011) N. J. Neill et al.   GENOME RESEARCH

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results

(2010) Sung-Hae L. Kang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Deletion of Hepatocyte Nuclear Factor-1-Beta in an Infant with Prune Belly Syndrome

(2010) Sina Haeri et al.   AMERICAN JOURNAL OF PERINATOLOGY

Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion

(2010) Chantal Loirat et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

(2009) Sandesh Chakravarthy Sreenath Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver Syndrome

(2009) Meena Balasubramanian et al.   European Journal of Medical Genetics

Genotype to phenotype—discovery and characterization of novel genomic disorders in a “genotype-first” era

(2009) Heather C Mefford   GENETICS IN MEDICINE

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports

(2009) Laura Bernardini et al.   Orphanet Journal of Rare Diseases

Antenatal and postnatal evidence of periventricular leukomalacia as a further indication of vascular disruption in Adams-Oliver syndrome

(2008) Eleftheria Papadopoulou et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Private inherited microdeletion/microduplications: Implications in clinical practice

(2008) Maria Antonietta Mencarelli et al.   European Journal of Medical Genetics