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European Journal of Human Genetics : EJHG|October 8, 2004
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndromeAnna Sarkozy, Maria Gabriela Obregon, Emanuela Conti, et al.
BMC Medical Genomics|February 13, 2013
Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6Laura Ciocca, Cecilia Surace, Maria Cristina Digilio, et al.
Heart Failure Clinics|March 12, 2018
Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathiesGiulio Calcagni, Rachele Adorisio, Simone Martinelli, et al.
The Journal of Clinical Endocrinology and Metabolism|September 13, 2003
The INSL3-LGR8/GREAT ligand-receptor pair in human cryptorchidismAlberto Ferlin, Mauro Simonato, Lucia Bartoloni, et al.
Human Mutation|February 22, 2002
Reliability of DHPLC in mutational screening of beta-globin (HBB) allelesAlessia Colosimo, Valentina Guida, Alessandro De Luca, et al.
Obesity (Silver Spring, Md.)|January 18, 2007
The Q121/Q121 genotype of ENPP1/PC-1 is associated with lower BMI in non-diabetic whitesSabrina Prudente, Manisha Chandalia, Eleonora Morini, et al.
American Journal of Medical Genetics. Part A|February 22, 2011
Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndromeAvishai A Alkalay, Tingwei Guo, Cristina Montagna, et al.
American Journal of Medical Genetics. Part A|June 24, 2004
Disomy of distal Xq in males: case report and overviewAntonio Novelli, Laura Bernardini, Damiano Carmelo Salpietro, et al.
Investigative Ophthalmology & Visual Science|September 28, 2005
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophiesMarco Castori, Enza Maria Valente, Maurizio Clementi, et al.
American Journal of Medical Genetics. Part A|December 15, 2007
Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genesLaura Bernardini, Chiara Palka, Caterina Ceccarini, et al.
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