Cerebro-costo-mandibular syndrome: a follow-up study with 6 patients

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements.

Journal of medical genetics·2009

Validation of preimplantation genetic diagnosis by PCR analysis: genotype comparison of the blastomere and corresponding embryo, implications for clinical practice.

Molecular human reproduction·2008

Identification of novel dyslexia candidate genes through the analysis of a chromosomal deletion.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics·2008

ESHRE PGD consortium data collection VII: cycles from January to December 2004 with pregnancy follow-up to October 2005.

Human reproduction (Oxford, England)·2008

Lymphedema, cardiac septal defects, and characteristic facies: possible new case of Irons-Bianchi syndrome.

American journal of medical genetics. Part A·2007