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Lindhurst, Marjorie J
42  results:
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1

Orofacial overgrowth with peripheral nerve enlargement and ..:

Koutlas, Ioannis G. ; Anbinder, Ana-Lia ; Alshagroud, Rana...
Human Genetics and Genomics Advances.  3 (2022)  1 - p. 100062 , 2022
Link: https://doi.org/10.1016/..
 
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2

Somatic PIK3R1 variation as a cause of vascular malformatio..:

Cottrell, Catherine E. ; Bender, Nicole R. ; Zimmermann, Michael T....
Genetics in Medicine.  23 (2021)  10 - p. 1882-1888 , 2021
Link: https://doi.org/10.1038/..
 
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3

Ubiquitous expression of Akt1 p.(E17K) results in vascular ..:

Lindhurst, Marjorie J ; Li, Wenling ; Laughner, Nathaniel...
Human Molecular Genetics.  29 (2020)  20 - p. 3350-3360 , 2020
Link: https://doi.org/10.1093/..
 
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4

Orofacial overgrowth with peripheral nerve enlargement and ..:

Koutlas, Ioannis G. ; Anbinder, Ana-Lia ; Alshagroud, Rana...
Human Genetics and Genomics Advances.  1 (2020)  1 - p. 100009 , 2020
Link: https://doi.org/10.1016/..
 
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5

A mouse model of Proteus syndrome:

Lindhurst, Marjorie J ; Brinster, Lauren R ; Kondolf, Hannah C...
Human Molecular Genetics.  28 (2019)  17 - p. 2920-2936 , 2019
Link: https://doi.org/10.1093/..
 
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6

Safety and efficacy of low-dose sirolimus in the PIK3CA-rel..:

Parker, Victoria E.R. ; Keppler-Noreuil, Kim M. ; Faivre, Laurence...
Genetics in Medicine.  21 (2019)  5 - p. 1189-1198 , 2019
Link: https://doi.org/10.1038/..
 
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7

Urine cell-free DNA is a biomarker for nephroblastomatosis ..:

Biderman Waberski, Marta ; Lindhurst, Marjorie ; Keppler-Noreuil, Kim M....
Genetics in Medicine.  20 (2018)  9 - p. 1077-1081 , 2018
Link: https://doi.org/10.1038/..
 
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8

Pathogenetic insights from quantification of the cerebrifor..:

Nathan, Neera R. ; Patel, Rachna ; Crenshaw, Molly M....
Journal of the American Academy of Dermatology.  78 (2018)  4 - p. 725-732 , 2018
Link: https://doi.org/10.1016/..
 
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9

Somatic AKT1 mutations cause meningiomas colocalizing with ..:

Keppler‐Noreuil, Kim M. ; Baker, Eva H. ; Sapp, Julie C...
American Journal of Medical Genetics Part A.  170 (2016)  10 - p. 2605-2610 , 2016
Link: https://doi.org/10.1002/..
 
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10

Lack of mutation–histopathology correlation in a patient wi..:

Doucet, Meggie E. ; Bloomhardt, Hadley M. ; Moroz, Krzysztof..
American Journal of Medical Genetics Part A.  170 (2016)  6 - p. 1422-1432 , 2016
Link: https://doi.org/10.1002/..
 
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11

Repression of AKT signaling by ARQ 092 in cells and tissues..:

Lindhurst, Marjorie J. ; Yourick, Miranda R. ; Yu, Yi...
Scientific Reports.  5 (2015)  1 - p. , 2015
Link: https://doi.org/10.1038/..
 
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12

Clinical delineation and natural history of the PIK3CA‐rela..:

Keppler‐Noreuil, Kim M. ; Sapp, Julie C. ; Lindhurst, Marjorie J....
American Journal of Medical Genetics Part A.  164 (2014)  7 - p. 1713-1733 , 2014
Link: https://doi.org/10.1002/..
 
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13

PIK3CA‐related overgrowth spectrum (PROS): Diagnostic and t..:

Keppler‐Noreuil, Kim M. ; Rios, Jonathan J. ; Parker, Victoria E.R....
American Journal of Medical Genetics Part A.  167 (2014)  2 - p. 287-295 , 2014
Link: https://doi.org/10.1002/..
 
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14

Mosaic overgrowth with fibroadipose hyperplasia is caused b..:

Lindhurst, Marjorie J ; Parker, Victoria E R ; Payne, Felicity...
Nature Genetics.  44 (2012)  8 - p. 928-933 , 2012
Link: https://doi.org/10.1038/..
 
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15

Knockout of Slc25a19 Causes Mitochondrial Thiamine Pyrophos..:

Lindhurst, Marjorie J. ; Fiermonte, Giuseppe ; Song, Shiwei...
Proceedings of the National Academy of Sciences of the United States of America.  103 (2006)  43 - p. 15927-15932 , 2006
Link: https://www.jstor.org/st..
 
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