Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions

By Wu Yuan‐Qing  

Human Molecular Genetics, Vol. 8, Iss. 2, 1999-02 ,pp. : 313-321

Oxford University Press

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Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage–fusion–bridge cycles are involved in generating terminal deletions

By Ballif Blake C.   Yu Wei   Shaw Chad A.   Kashork Catherine D.   Shaffer Lisa G.  

Human Molecular Genetics, Vol. 12, Iss. 17, 2003-09 ,pp. : 2153-2165

Oxford University Press

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Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay

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American Journal Of Medical Genetics Part A, Vol. 155, Iss. 10, 2011-10 ,pp. : 2589-2592

John Wiley & Sons Inc

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Preimplantation Genetic Diagnosis for Aneuploidy and Translocations Using Array Comparative Genomic Hybridization

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Current Genomics, Vol. 13, Iss. 6, 2012-09 ,pp. : 463-470

Bentham Science Publishers

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Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome

By Mátyás Gábor   Alonso Sira   Patrignani Andrea   Marti Myriam   Arnold Eliane   Magyar István   Henggeler Caroline   Carrel Thierry   Steinmann Beat   Berger Wolfgang  

Human Genetics, Vol. 122, Iss. 1, 2007-08 ,pp. : 23-32

Springer Publishing Company

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