Early Onset Mandibuloacral Dysplasia Due to Compound Heterozygous Mutations in ZMPSTE24AHMAD, Zahid; ZACKAI, Elaine; MEDNE, Livija et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 11, pp 2703-2710, issn 1552-4825, 8 p.Article

Digeorge anomaly in a patient with isochromosome 18p born to a diabetic motherDEBERARDINIS, Ralph J; MEDNE, Livija; SPINNER, Nancy B et al.American journal of medical genetics. 2005, Vol 138A, Num 2, pp 155-159, issn 0148-7299, 5 p.Article

A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and teebi syndromesHOFFMAN, Jodi D; IRONS, Mira; SCHWARTZ, Charles E et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 12, pp 1282-1286, issn 1552-4825, 5 p.Article

Developmental Anomalies With Features of Disorganization (Ds) and Amniotic Band Sequence (ABS): A Report of Four CasesPURANDARE, Smita M; ERNST, Linda; MEDNE, Livija et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 8, pp 1740-1748, issn 1552-4825, 9 p.Article

Serum α-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasiaCLERICUZIO, Carol L; CHEN, Emily; MCNEIL, Dawn Elizabeth et al.The Journal of pediatrics. 2003, Vol 143, Num 2, pp 270-272, issn 0022-3476, 3 p.Article

BECKER MUSCULAR DYSTROPHY DUE TO AN INVERSION OF EXONS 23 AND 24 OF THE DMD GENEFLANIGAN, Kevin M; DUNN, Diane; AARON LARSEN, C et al.Muscle & nerve. 2011, Vol 44, Num 5, pp 822-825, issn 0148-639X, 4 p.Article

Crane-Heise syndrome: A second familial case report with elaboration of phenotypeZAND, Dina J; CARPENTIERI, David; HUFF, Dale et al.American journal of medical genetics. 2003, Vol 118A, Num 3, pp 223-228, issn 0148-7299, 6 p.Article

Subtelomeric Deletion of Chromosome 10p15.3: Clinical Findings and Molecular Cytogenetic CharacterizationDESCIPIO, Cheryl; CONLIN, Laura; MCGUIRE, Marianne et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 9, pp 2152-2161, issn 1552-4825, 10 p.Article

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysisCONLIN, Laura K; THIEL, Brian D; BONNEMANN, Carsten G et al.Human molecular genetics (Print). 2010, Vol 19, Num 7, pp 1263-1275, issn 0964-6906, 13 p.Article

Consistent Chromosome Abnormalities Identify Novel Polymicrogyria Loci in lp36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2DOBYNS, William B; MIRZAA, Ghayda; PARSONS, Julie et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 13, pp 1637-1654, issn 1552-4825, 18 p.Article

Subtelomeric deletions of chromosome 9q: A novel microdeletion syndromeSTEWART, Douglas R; HUANG, Alina; GRIPP, Karen W et al.American journal of medical genetics. 2004, Vol 128A, Num 4, pp 340-351, issn 0148-7299, 12 p.Article

Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrumBHARUCHA-GOEBEL, Diana Xerxes; SANTI, Mariarita; MONNIER, Nicole et al.Neurology. 2013, Vol 80, Num 17, pp 1584-1589, issn 0028-3878, 6 p.Article

DMD Pseudoexon Mutations : Splicing Efficiency, Phenotype, and Potential TherapyGURVICH, Olga L; TUOHY, Therese M; HOWARD, Michael T et al.Annals of neurology. 2008, Vol 63, Num 1, pp 81-89, issn 0364-5134, 9 p.Article

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2BALLIF, Blake C; HORNOR, Sara A; GRAHAM, John M et al.Nature genetics. 2007, Vol 39, Num 9, pp 1071-1073, issn 1061-4036, 3 p.Article

Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosumBOLAND, Elena; CLAYTON-SMITH, Jill; SHERR, Elliott H et al.American journal of human genetics. 2007, Vol 81, Num 2, pp 292-303, issn 0002-9297, 12 p.Article

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndromeKRIEGER, Michael; ROOS, Andreas; FINKEL, Richard S et al.Brain. 2013, Vol 136, pp 3634-3644, issn 0006-8950, 11 p., 12Article

Clinical and mutational spectrum of mowat-wilson syndromeZWEIER, Christiane; THIEL, Christian T; BIER, Andrea et al.European journal of medical genetics. 2005, Vol 48, Num 2, pp 97-111, issn 1769-7212, 15 p.Article

Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9MORRISSETTE, Jennifer J. D; LAUFER-CAHANA, Ayala; MEDNE, Livija et al.American journal of medical genetics. 2003, Vol 123A, Num 3, pp 279-284, issn 0148-7299, 6 p.Article

Paternal origin of the de novo constitutional t(11;22)(q23;q11)OHYE, Tamae; INAGAKI, Hidehito; KURAHASHI, Hiroki et al.European journal of human genetics. 2010, Vol 18, Num 7, pp 783-787, issn 1018-4813, 5 p.Article

Clinical and Molecular Analysis of Arylsulfatase E in Patients With Brachytelephalangic Chondrodysplasia PunctataNINO, Michelle; MATOS-MIRANDA, Claudia; ZACKAI, Elaine et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 8, pp 997-1008, issn 1552-4825, 12 p.Article

A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakageMORRISSETTE, Jennifer J. D; MEDNE, Livija; BENTLEY, Tyrone et al.American journal of medical genetics. 2005, Vol 137A, Num 2, pp 208-212, issn 0148-7299, 5 p.Article

Large Genomic Deletions: A Novel Cause of Ullrich Congenital Muscular DystrophyREGHAN FOLEY, A; YING HU; NEUMEYER, Ann M et al.Annals of neurology. 2011, Vol 69, Num 1, pp 206-211, issn 0364-5134, 6 p.Article