A Fragile X Sibship from a Consanguineous Family With a Compound Heterozygous Female and Partially Methylated Full Mutation MaleSORENSEN, Page L; BASUTA, Kirin; MENDOZA-MORALES, Guadalupe et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 5, pp 1221-1224, issn 1552-4825, 4 p.Article

17q12 Microdeletion Syndrome: Three Patients Illustrating the Phenotypic SpectrumDIXIT, Abhijit; PATE, Chirag; HARRISON, Rachel et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 9, pp 2317-2321, issn 1552-4825, 5 p.Article

A Benign Form of Congenital Anterolateral Bowing of the Tibia Associated With Ipsilateral Polydactyly of the Hallux: Case Report and Literature ReviewJIUHUI HAN; LEI QU; YAZHOU LI et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 7, pp 1742-1749, issn 1552-4825, 8 p.Article

A Comprehensive Study to Determine Heterogeneity of Autosomal Recessive Nonsyndromic Hearing Loss in IranBABANEJAD, Mojgan; FATTAHI, Zohreh; SMITH, Richard J. H et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 10, pp 2485-2492, issn 1552-4825, 8 p.Article

A Homozygous IER3IP1 Mutation Causes Microcephaly With Simplified Gyral Pattern, Epilepsy, and Permanent Neonatal Diabetes Syndrome (MEDS)ABDEL-SALAM, Ghada M. H; SCHAFFER, Ashleigh E; ZAKI, Maha S et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 11, pp 2788-2796, issn 1552-4825, 9 p.Article

Complete Trisomy 10p Resulting From an Extra Stable Telocentric ChromosomeLOZIC, Bernarda; CULIC, Vida; LASAN, Ruzica et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 7, pp 1778-1781, issn 1552-4825, 4 p.Article

Deletion of Fiiamin A in Two Female Patients With Periventricular Nodular HeterotopiaWARMAN CHARDON, Jodi; MIENOT, Cyril; ARADHYA, Swaroop et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 6, pp 1512-1516, issn 1552-4825, 5 p.Article

Duplication of 18q21.32―q22.3 Identified in a Stillborn and Two Relatives With Minimal Dysmorphic FeaturesHENSON, Kaylee E; HINES, Karrie A; WEAVER, David D et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 7, pp 1788-1792, issn 1552-4825, 5 p.Article

Early-Onset Osteoarthritis in Ehlers―Danlos Syndrome Type VIIIREINSTEIN, Eyal; PARIANI, Mitchel; LACHMAN, Ralph S et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 4, pp 938-941, issn 1552-4825, 4 p.Article

Familial 25.3 Mb Inverted Duplication of Bands q32.1 to q35.1 on Chromosome 4 With Psychomotor ImpairmentsMARTIN, Judith; SALEKI, Reza; CHRISTENSEN, Todd et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 10, pp 2624-2628, issn 1552-4825, 5 p.Article

Infant With MCA and Severe Cutis Laxa Due to a De Novo Duplication 11p of Paternal OriginGARDEITCHIK, T; DE LEEUW, N; NIJTMANS, L et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 2, pp 469-472, issn 1552-4825, 4 p.Article

Multiple Supernumerary Molars, Anterior Openbite, and Large Ear Lobules in Mucopolysaccharidosis Type VI PatientKAYSERILI, Hülya; KANTAPUTRA, Piranit Nik.American journal of medical genetics. Part A. 2012, Vol 158, Num 7, pp 1798-1800, issn 1552-4825, 3 p.Article

Spontaneous Coronary Artery Dissection in a Young Woman With Loeys―Dietz SyndromeFATTORI, Rossella; SANGIORGIO, Pietro; MARIUCCI, Elisabetta et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 5, pp 1216-1218, issn 1552-4825, 3 p.Article

The Diagnostic Odyssey to Rett Syndrome: The Experience of an Australian FamilyKNOTT, Marisa; LEONARD, Helen; DOWNS, Jenny et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 1, pp 10-12, issn 1552-4825, 3 p.Article

Tissue-Limited Ring Chromosome 18 Mosaicism as a Cause of Pitt―Hopkins SyndromeTAKENOUCHI, Toshiki; YAGIHASHI, Tatsuhiko; TSUCHIYA, Hiroyuki et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 10, pp 2621-2623, issn 1552-4825, 3 p.Article

A Novel HRAS Substitution (c.266C>G; p.S89C) Resulting in Decreased Downstream Signaling Suggests a New Dimension of RAS Pathway Dysregulation in Human DevelopmentGRIPP, Karen W; BIFELD, Eugenia; STABLEY, Deborah L et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 9, pp 2106-2118, issn 1552-4825, 13 p.Article

Aberrant Methylation of H19-DMR Acquired After Implantation Was Dissimilar in Soma Versus Placenta of Patients With Beckwith―Wiedemann SyndromeHIGASHIMOTO, Ken; NAKABAYASHI, Kazuhiko; KOIDE, Kayoko et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 7, pp 1670-1675, issn 1552-4825, 6 p.Article

Analysis of Skeletal Dysplasias in the Utah PopulationSTEVENSON, David A; CAREY, John C; BYRNE, Janice L. B et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 5, pp 1046-1054, issn 1552-4825, 9 p.Article

Anthropometric Measurements in Egyptian Patients With Osteogenesis ImperfectaAGLAN, Mona S; ZAKI, Moushira E; HOSNY, Laila et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 11, pp 2714-2718, issn 1552-4825, 5 p.Article

Array-CGH and Clinical Characterization in a Patient With Subtelomeric 6p Deletion Without Ocular DysgenesisPICCIONE, Maria; ANTONA, R; SALZANO, E et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 1, pp 150-154, issn 1552-4825, 5 p.Article

Attitudes Toward Prenatal Genetic Testing for Treacher Collins Syndrome Among Affected Individuals and FamiliesWU, Rebecca L; LAWSON, Cathleen S; WANG JABS, Ethylin et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 7, pp 1556-1567, issn 1552-4825, 12 p.Article

Atypical Amyoplasia Congenita in an Infant With Leigh Syndrome: A Mitochondrial Cause of Severe Contractures?WILNAI, Yael; SEAVER, Laurie H; ENNS, Gregory M et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 9, pp 2353-2357, issn 1552-4825, 5 p.Article

Atypical Findings in Three Patients with Pai Syndrome and Literature ReviewLEDERER, Damien; WILSON, Brian; LEFESVRE, Pierre et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 11, pp 2899-2904, issn 1552-4825, 6 p.Article

Audiological Findings in Williams Syndrome: A Study of 69 PatientsBAROZZI, Stefania; SOI, Daniela; CESARANI, Antonio et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 4, pp 759-771, issn 1552-4825, 13 p.Article

Beyond Gómez-López-Hernández Syndrome: Recurring Phenotypic Themes in RhombencephalosynapsisTULLY, Hannah M; DEMPSEY, Jennifer C; GLASS, Ian et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 10, pp 2393-2406, issn 1552-4825, 14 p.Article