"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.
American journal of medical genetics. Part A
, 2013 Jan: 161A(1)108-13
Evaluation of ICD-9-CM codes for craniofacial microsomia.
Birth defects research. Part A, Clinical and molecular teratology
, 2012 Dec: 94(12)990-5
Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation.
Disease models & mechanisms
, 2012 Nov: 5(6)812-22
Comparison of Two-Dimensional and Three-Dimensional Images for Phenotypic Assessment of Craniofacial Microsomia.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
, 2012 Jul 31
Microtia: Epidemiology and genetics.
American journal of medical genetics. Part A
, 2011 Nov 21
Microtia-anotia: a global review of prevalence rates.
Birth defects research. Part A, Clinical and molecular teratology
, 2011 Sep: 813-22
A phenotypic assessment tool for craniofacial microsomia.
Plastic and reconstructive surgery
, 2011 Jan: 313-20
Surveillance of birth defects: Brazil and the US.
Ciencia & saude coletiva
, 2011: 777-85
Validity and reliability of the Brazilian birth certificate for reporting birth defects.
Journal of registry management
, 2010 Fall: 112-20
Quality of reporting on birth defects in birth certificates: case study from a Brazilian reference hospital.
Cadernos de saude publica / Ministerio da Saude, Fundacao Oswaldo Cruz, Escola Nacional de Saude Publica
, 2009 Aug: 1721-31
Al-Awadi/Raas-Rothschild syndrome: two new cases and review.
American journal of medical genetics. Part A
, 2007 Dec 15: 3169-74
A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q.
American journal of medical genetics. Part A
, 2007 Nov 15: 2733-7
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.
European journal of medical genetics
, 2007 Jul-Aug: 301-8
Gillespie syndrome: additional findings and parental consanguinity.
Ophthalmic genetics
, 2007 Jun: 89-93
Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1.
American journal of medical genetics. Part A
, 2007 Feb 1: 241-7
Congenital temporomandibular joint ankylosis: clinical characterization and natural history of four unrelated affected individuals.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
, 2005 Nov: 694-8