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581.
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Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. [electronic resource] by
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- Jain, Mahim
- Almannai, Mohammed
- Orand, Thibault
- Lu, James T
- Tran, Alyssa
- Chen, Yuqing
- Schlesinger, Alan
- Gibbs, Richard
- Bonafe, Luisa
- Campos-Xavier, Ana Belinda
- Unger, Sheila
- Superti-Furga, Andrea
- Lee, Brendan H
- Campeau, Philippe M
- Burrage, Lindsay C
Producer: 20171019
In:
American journal of medical genetics. Part A vol. 173
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582.
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Global seabird response to forage fish depletion--one-third for the birds. [electronic resource] by
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- Boyd, Ian L
- Bonhommeau, Sylvain
- Anker-Nilssen, Tycho
- Crawford, Robert J M
- Furness, Robert W
- Mills, James A
- Murphy, Eugene J
- Osterblom, Henrik
- Paleczny, Michelle
- Piatt, John F
- Roux, Jean-Paul
- Shannon, Lynne
- Sydeman, William J
Producer: 20120125
In:
Science (New York, N.Y.) vol. 334
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583.
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Yunis-Varón syndrome caused by biallelic VAC14 mutations. [electronic resource] by
- Lines, Matthew A
- Ito, Yoko
- Kernohan, Kristin D
- Mears, Wendy
- Hurteau-Miller, Julie
- Venkateswaran, Sunita
- Ward, Leanne
- Khatchadourian, Karine
- McClintock, Jeff
- Bhola, Priya
- Campeau, Philippe M
- Boycott, Kym M
- Michaud, Jean
- van Kuilenburg, André Bp
- Ferdinandusse, Sacha
- Dyment, David A
Producer: 20171207
In:
European journal of human genetics : EJHG vol. 25
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584.
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Development of an oxazolopyridine series of dual thrombin/factor Xa inhibitors via structure-guided lead optimization. [electronic resource] by
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- McMasters, Daniel R
- Rabbat, Philippe M A
- Williams, Peter D
- Coburn, Craig A
- Yan, Youwei
- Kuo, Lawrence C
- Lewis, S Dale
- Lucas, Bobby J
- Krueger, Julie A
- Strulovici, Berta
- Vacca, Joseph P
- Lyle, Terry A
- Burgey, Christopher S
Producer: 20051214
In:
Bioorganic & medicinal chemistry letters vol. 15
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585.
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Comparative Population Genomics Analysis of the Mammalian Fungal Pathogen [electronic resource] by
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- Ma, Liang
- Wei Huang, Da
- Khil, Pavel P
- Dekker, John P
- Kutty, Geetha
- Bishop, Lisa
- Liu, Yueqin
- Deng, Xilong
- Hauser, Philippe M
- Pagni, Marco
- Hirsch, Vanessa
- Lempicki, Richard A
- Stajich, Jason E
- Cuomo, Christina A
- Kovacs, Joseph A
Producer: 20190128
In:
mBio vol. 9
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586.
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FBN1 contributing to familial congenital diaphragmatic hernia. [electronic resource] by
- Beck, Tyler F
- Campeau, Philippe M
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- Gambin, Tomasz
- Li, Alexander H
- Abo-Zahrah, Reem
- Jordan, Valerie K
- Hernandez-Garcia, Andres
- Wiszniewski, Wojciech K
- Muzny, Donna
- Gibbs, Richard A
- Boerwinkle, Eric
- Lupski, James R
- Lee, Brendan
- Reardon, Willie
- Scott, Daryl A
Producer: 20151214
In:
American journal of medical genetics. Part A vol. 167A
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587.
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Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. [electronic resource] by
- Campeau, Philippe M
- Lenk, Guy M
- Lu, James T
- Bae, Yangjin
- Burrage, Lindsay
- Turnpenny, Peter
- Román Corona-Rivera, Jorge
- Morandi, Lucia
- Mora, Marina
- Reutter, Heiko
- Vulto-van Silfhout, Anneke T
- Faivre, Laurence
- Haan, Eric
- Gibbs, Richard A
- Meisler, Miriam H
- Lee, Brendan H
Producer: 20130705
In:
American journal of human genetics vol. 92
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588.
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A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies. [electronic resource] by
- Nixon, Kevin C J
- Rousseau, Justine
- Stone, Max H
- Sarikahya, Mohammed
- Ehresmann, Sophie
- Mizuno, Seiji
- Matsumoto, Naomichi
- Miyake, Noriko
- Baralle, Diana
- McKee, Shane
- Izumi, Kosuke
- Ritter, Alyssa L
- Heide, Solveig
- Héron, Delphine
- Depienne, Christel
- Titheradge, Hannah
- Kramer, Jamie M
- Campeau, Philippe M
Producer: 20200203
In:
American journal of human genetics vol. 104
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589.
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Strategic emphases for tropical diseases research: a TDR perspective. [electronic resource] by
- Remme, Jan H F
- Blas, Erik
- Chitsulo, Lester
- Desjeux, Philippe M P
- Engers, Howard D
- Kanyok, Thomas P
- Kayondo, Jane F
- Kioy, Deborah W
- Kumaraswami, Vasanthapuram
- Lazdins, Janis K
- Nunn, Paul P
- Oduola, Ayoade
- Ridley, Robert G
- Toure, Yeya T
- Zicker, Fabio
- Morel, Carlos M
Producer: 20021122
In:
Trends in microbiology vol. 10
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590.
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Structure-based design and mechanisms of allosteric inhibitors for mitochondrial branched-chain α-ketoacid dehydrogenase kinase. [electronic resource] by
- Tso, Shih-Chia
- Qi, Xiangbing
- Gui, Wen-Jun
- Chuang, Jacinta L
- Morlock, Lorraine K
- Wallace, Amy L
- Ahmed, Kamran
- Laxman, Sunil
- Campeau, Philippe M
- Lee, Brendan H
- Hutson, Susan M
- Tu, Benjamin P
- Williams, Noelle S
- Tambar, Uttam K
- Wynn, R Max
- Chuang, David T
Producer: 20130823
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 110
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591.
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Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia. [electronic resource] by
- Egunsola, Adetutu T
- Bae, Yangjin
- Jiang, Ming-Ming
- Liu, David S
- Chen-Evenson, Yuqing
- Bertin, Terry
- Chen, Shan
- Lu, James T
- Nevarez, Lisette
- Magal, Nurit
- Raas-Rothschild, Annick
- Swindell, Eric C
- Cohn, Daniel H
- Gibbs, Richard A
- Campeau, Philippe M
- Shohat, Mordechai
- Lee, Brendan H
Producer: 20170912
In:
The Journal of clinical investigation vol. 127
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592.
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Case Report: Novel mutations in [electronic resource] by
- Banuelos, Erika
- Ramsey, Keri
- Belnap, Newell
- Krishnan, Malavika
- Balak, Chris
- Szelinger, Szabolcs
- Siniard, Ashley L
- Russell, Megan
- Richholt, Ryan
- De Both, Matt
- Piras, Ignazio
- Naymik, Marcus
- Claasen, Ana M
- Rangasamy, Sampathkumar
- Huentelman, Matthew J
- Craig, David W
- Campeau, Philippe M
- Narayanan, Vinodh
- Schrauwen, Isabelle
Publication details: F1000Research 2017
In:
F1000Research vol. 6
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593.
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Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. [electronic resource] by
- Shapiro, Jay R
- Lietman, Caressa
- Grover, Monica
- Lu, James T
- Nagamani, Sandesh Cs
- Dawson, Brian C
- Baldridge, Dustin M
- Bainbridge, Matthew N
- Cohn, Dan H
- Blazo, Maria
- Roberts, Timothy T
- Brennen, Feng-Shu
- Wu, Yimei
- Gibbs, Richard A
- Melvin, Pamela
- Campeau, Philippe M
- Lee, Brendan H
Producer: 20131104
In:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research vol. 28
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594.
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Strategic emphases for tropical diseases research: a TDR perspective. [electronic resource] by
- Remme, Jan H F
- Blas, Erik
- Chitsulo, Lester
- Desjeux, Philippe M P
- Engers, Howard D
- Kanyok, Thomas P
- Kengeya Kayondo, Jane F
- Kioy, Deborah W
- Kumaraswami, Vasanthapuram
- Lazdins, Janis K
- Nunn, Paul P
- Oduola, Ayoade
- Ridley, Robert G
- Toure, Yeya T
- Zicker, Fabio
- Morel, Carlos M
Producer: 20021202
In:
Trends in parasitology vol. 18
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595.
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Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures". [electronic resource] by
- Costantini, Alice
- Valta, Helena
- Baratang, Nissan Vida
- Yap, Patrick
- Bertola, Débora R
- Yamamoto, Guilherme L
- Kim, Chong A
- Chen, Jiani
- Wierenga, Klaas J
- Fanning, Elizabeth A
- Escobar, Luis
- McWalter, Kirsty
- McLaughlin, Heather
- Willaert, Rebecca
- Begtrup, Amber
- Alm, Jessica J
- Reinhardt, Dieter P
- Mäkitie, Outi
- Campeau, Philippe M
Producer: 20200420
In:
Bone vol. 121
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596.
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Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy. [electronic resource] by
- Johnstone, Devon L
- Nguyen, Thi-Tuyet-Mai
- Murakami, Yoshiko
- Kernohan, Kristin D
- Tétreault, Martine
- Goldsmith, Claire
- Doja, Asif
- Wagner, Justin D
- Huang, Lijia
- Hartley, Taila
- St-Denis, Anik
- le Deist, Françoise
- Majewski, Jacek
- Bulman, Dennis E
- Kinoshita, Taroh
- Dyment, David A
- Boycott, Kym M
- Campeau, Philippe M
Producer: 20171017
In:
Human molecular genetics vol. 26
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597.
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Diversity of Pneumocystis jirovecii Across Europe: A Multicentre Observational Study. [electronic resource] by
- Alanio, Alexandre
- Gits-Muselli, Maud
- Guigue, Nicolas
- Desnos-Ollivier, Marie
- Calderon, Enrique J
- Di Cave, David
- Dupont, Damien
- Hamprecht, Axel
- Hauser, Philippe M
- Helweg-Larsen, Jannik
- Kicia, Marta
- Lagrou, Katrien
- Lengerova, Martina
- Matos, Olga
- Melchers, Willem J G
- Morio, Florent
- Nevez, Gilles
- Totet, Anne
- White, Lewis P
- Bretagne, Stéphane
Producer: 20180131
In:
EBioMedicine vol. 22
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598.
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FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis. [electronic resource] by
- Piard, Juliette
- Hu, Jia-Hua
- Campeau, Philippe M
- Rzonca, Sylwia
- Van Esch, Hilde
- Vincent, Elizabeth
- Han, Mei
- Rossignol, Elsa
- Castaneda, Jennifer
- Chelly, Jamel
- Skinner, Cindy
- Kalscheuer, Vera M
- Wang, Ruihua
- Lemyre, Emmanuelle
- Kosinska, Joanna
- Stawinski, Piotr
- Bal, Jerzy
- Hoffman, Dax A
- Schwartz, Charles E
- Van Maldergem, Lionel
- Wang, Tao
- Worley, Paul F
Producer: 20190107
In:
Human molecular genetics vol. 27
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599.
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Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy. [electronic resource] by
- Nguyen, Thi Tuyet Mai
- Murakami, Yoshiko
- Wigby, Kristen M
- Baratang, Nissan V
- Rousseau, Justine
- St-Denis, Anik
- Rosenfeld, Jill A
- Laniewski, Stephanie C
- Jones, Julie
- Iglesias, Alejandro D
- Jones, Marilyn C
- Masser-Frye, Diane
- Scheuerle, Angela E
- Perry, Denise L
- Taft, Ryan J
- Le Deist, Françoise
- Thompson, Miles
- Kinoshita, Taroh
- Campeau, Philippe M
Producer: 20190514
In:
American journal of human genetics vol. 103
Availability: No items available.
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600.
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Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. [electronic resource] by
- Nagamani, Sandesh C S
- Campeau, Philippe M
- Shchelochkov, Oleg A
- Premkumar, Muralidhar H
- Guse, Kilian
- Brunetti-Pierri, Nicola
- Chen, Yuqing
- Sun, Qin
- Tang, Yaoping
- Palmer, Donna
- Reddy, Anilkumar K
- Li, Li
- Slesnick, Timothy C
- Feig, Daniel I
- Caudle, Susan
- Harrison, David
- Salviati, Leonardo
- Marini, Juan C
- Bryan, Nathan S
- Erez, Ayelet
- Lee, Brendan
Producer: 20120625
In:
American journal of human genetics vol. 90
Availability: No items available.
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