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Brendan Lee
Researcher at Baylor College of Medicine
Publications - 435
Citations - 23987
Brendan Lee is an academic researcher from Baylor College of Medicine. The author has contributed to research in topics: Osteogenesis imperfecta & Gene. The author has an hindex of 76, co-authored 405 publications receiving 20716 citations. Previous affiliations of Brendan Lee include Université de Montréal & University of Ulsan.
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Journal ArticleDOI
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes
Brendan Lee,Maurice Godfrey,Emilia Vitale,Hisae Hori,Marie Geneviève Mattei,Mansoor Sarfarazi,Petros Tsipouras,Francesco Ramirez,David W. Hollister +8 more
TL;DR: The cosegregation of two related genes with two related syndromes implies that fibrillin mutations are likely to be responsible for different MFS phenotypes.
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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
Nicola Brunetti-Pierri,Jonathan S. Berg,Fernando Scaglia,John W. Belmont,Carlos A. Bacino,Trilochan Sahoo,Seema R. Lalani,Brett H. Graham,Brendan Lee,Marwan Shinawi,Joseph J. Shen,Sung Hae L. Kang,Amber Pursley,Timothy Lotze,Gail L. Kennedy,Susan Lansky-Shafer,Christine Weaver,Elizabeth Roeder,Theresa A. Grebe,Georgianne L. Arnold,Terry Hutchison,Tyler Reimschisel,Stephen Amato,Michael T. Geragthy,Jeffrey W. Innis,Ewa Obersztyn,Beata Nowakowska,Sally Rosengren,Patricia I. Bader,Dorothy K. Grange,Sayed Naqvi,Adolfo D. Garnica,Saunder Bernes,Chin-To Fong,Anne M. Summers,W. David Walters,James R. Lupski,Pawel Stankiewicz,Sau Wai Cheung,Ankita Patel +39 more
TL;DR: It is proposed that recurrent reciprocal microdeletions and microduplications within 1q21.1 represent previously unknown genomic disorders characterized by abnormal head size along with a spectrum of developmental delay, neuropsychiatric abnormalities, dysmorphic features and congenital anomalies.
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Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.
Brendan Lee,Kannan Thirunavukkarasu,Lei Zhou,Lucio Pastore,Antonio Baldini,Jacqueline Hecht,Valerie Geoffroy,Patricia Ducy,Gerard Karsenty +8 more
TL;DR: DNA-binding studies with the mutant polypeptides show that these amino acid substitutions abolish the DNA-binding ability of OSF2/CBFA1 to its known target sequence, and direct genetic evidence that the phenotype is secondary to an alteration of osteoblast differentiation is provided.
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Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome
Haixu Chen,Yi Lun,Dmitry A. Ovchinnikov,Hiroki Kokubo,Kerby C. Oberg,Carmen Pepicelli,Lin Gan,Brendan Lee,Randy L. Johnson +8 more
TL;DR: The results demonstrate an essential function for Lmx1b in mouse limb and kidney development and suggest that NPS might result from mutations in the human LMX1B gene.
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Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
Sandra D. Dreyer,Guang Zhou,Antonio Baldini,Andreas Winterpacht,Bernhard Zabel,William W. Cole,Randy L. Johnson,Brendan Lee +7 more
TL;DR: A unique role for LMX1B in renal development and in patterning of the skeletal system is demonstrated, and it is suggested that alteration of Lmxlb/LMx1B function in mice and humans results in similar phenotypes.