Concepedia

Monosomy 1p36 – A multifaceted and still enigmatic syndrome: Four clinically diverse cases with shared white matter abnormalities

Eve Õiglane‐Shlik, Sanna Puusepp, Inga Talvik, Ulvi Vaher, Reet Rein, Pille Tammur, Tiia Reimand, Rita Teek, Olga Žilina, Tiiu Tomberg,

European Journal of Paediatric Neurology · 2014 · 42 citations · 30 references

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References

30

Chromosome 1p36 Deletions: The Clinical Phenotype and Molecular Characterization of a Common Newly Delineated Syndrome

Stuart K. Shapira, Christopher McCaskill, Hope Northrup et al. · The American Journal of Human Genetics · 1997 · 342 citations · Full text

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Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation

Agatino Battaglia, H. Eugene Hoyme, Bruno Dallapiccola et al. · PEDIATRICS · 2008 · 310 citations

, , +17

Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome

Heidi A. Heilstedt, Blake C. Ballif, L A Howard et al. · The American Journal of Human Genetics · 2003 · 296 citations · Full text

, , +12

Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

Alexander Doyle, Jefferson J. Doyle, Seneca L. Bessling et al. · Nature Genetics · 2012 · 262 citations · Full text

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Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2

William B. Dobyns, Ghayda Mirzaa, Susan L. Christian et al. · American Journal of Medical Genetics Part A · 2008 · 175 citations

, , +16