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Campagne de collecte 15 septembre 2024 – 1 octobre 2024

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Livres
Articles (61)
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1

Relationship Between Physical Factors and Non-Sport Specific Movement Skills in Australian Taekwondo Athletes

Maloney, Michael A., Farrow, Damian, Dunn, Emily C., Humberstone, Clare E., Martin, David T.

Journal:

Medicine & Science in Sports & Exercise

Année:

2015

Langue:

english

Fichier:

PDF, 210 KB

english, 2015

2

Extended mutational analyses of FGFR1 in osteoglophonic dysplasia

Emily G. Farrow, Siobhan I. Davis, Sean D. Mooney, Peter Beighton, Leo Mascarenhas, Yvonne R. Gutierrez, Pisit Pitukcheewanont, Kenneth E. White

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 254 KB

english, 2006

3

A case of de novo partial tetrasomy of distal 6p and review of the literature

Ryan Stohler, Ellen Kucharski, Emily Farrow, Wilfredo Torres-Martinez, Paula Delk, Virginia C. Thurston, Gail H. Vance

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 176 KB

english, 2007

4

Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho)

Emily G. Farrow, Erik A. Imel, Kenneth E. White

Journal:

Best Practice & Research Clinical Rheumatology

Année:

2011

Langue:

english

Fichier:

PDF, 493 KB

english, 2011

5

Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets

Emily G. Farrow, Siobhan I. Davis, Leanne M. Ward, Lelia J. Summers, Judith S. Bubbear, Richard Keen, Trevor C.B. Stamp, Laurence R.I. Baker, Lynda F. Bonewald, Kenneth E. White

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 767 KB

english, 2009

6

Parathyroid hormone receptor signaling in osteocytes increases the expression of fibroblast growth factor-23 in vitro and in vivo

Yumie Rhee, Nicoletta Bivi, Emily Farrow, Virginia Lezcano, Lilian I. Plotkin, Kenneth E. White, Teresita Bellido

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 777 KB

english, 2011

7

Tumor-induced osteomalacia

Farrow, Emily G, White, Kenneth E

Journal:

Expert Review of Endocrinology & Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 662 KB

english, 2009

8

De novoframeshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies

Dinwiddie, Darrell L, Soden, Sarah E, Saunders, Carol J, Miller, Neil A, Farrow, Emily G, Smith, Laurie D, Kingsmore, Stephen F

Journal:

BMC Medical Genomics

Année:

2013

Langue:

english

Fichier:

PDF, 222 KB

english, 2013

9

Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome

Dinwiddie, Darrell L., Smith, Laurie D., Miller, Neil A., Atherton, Andrea M., Farrow, Emily G., Strenk, Meghan E., Soden, Sarah E., Saunders, Carol J., Kingsmore, Stephen F.

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 698 KB

english, 2013

10

Cord blood biomarkers of vascular endothelial growth (VEGF and sFlt-1) and postnatal growth: A preterm birth cohort study

Voller, Stephannie Baehl, Chock, Susanne, Ernst, Linda M., Su, Emily, Liu, Xin, Farrow, Kathryn N., Mestan, Karen K.

Journal:

Early Human Development

Année:

2014

Langue:

english

Fichier:

PDF, 279 KB

english, 2014

11

Roger Edmund Farrow

Sue Farrow, Sarah Farrow, Emily Farrow and Edward Farrow

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 315 KB

english, 2010

12

Minor Survey of the Administration of Criminal Justice in Hartford, New Haven and Bridgeport

Florence L. C. Kitchelt, Tierra Farrow, William M. Maltbie, George H. Day, Walter M. Pickett, Kenneth Wynne, Thomas Hewes and Emily Sophie Brown

Journal:

Journal of the American Institute of Criminal Law and Criminology

Année:

1926

Langue:

english

Fichier:

PDF, 7.76 MB

english, 1926

13

Molecular Diagnosis of Infantile Neuro axonal Dystrophy by Next Generation Sequencing

Goyal, Manisha, Bijarnia-Mahay, Sunita, Kingsmore, Stephen, Farrow, Emily, Saunders, Carol, Saxena, Renu, Verma, Ishwar C.

Journal:

Indian Journal of Pediatrics

Année:

2015

Langue:

english

Fichier:

PDF, 451 KB

english, 2015

14

A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: A newly recognized syndrome?

Roberts, Jessica, Torres-Martinez, Wilfredo, Farrow, Emily, Stevens, Abby, Delk, Paula, White, Kenneth E., Weaver, David D.

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 445 KB

english, 2014

15

Neonatal Iron Deficiency Causes Abnormal Phosphate Metabolism by Elevating FGF23 in Normal and ADHR Mice

Clinkenbeard, Erica L, Farrow, Emily G, Summers, Lelia J, Cass, Taryn A, Roberts, Jessica L, Bayt, Christine A, Lahm, Tim, Albrecht, Marjorie, Allen, Matthew R, Peacock, Munro, White, Kenneth E

Journal:

Journal of Bone and Mineral Research

Année:

2014

Langue:

english

Fichier:

PDF, 834 KB

english, 2014

16

CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria

Saunders, Carol, Smith, Laurie, Wibrand, Flemming, Ravn, Kirstine, Bross, Peter, Thiffault, Isabelle, Christensen, Mette, Atherton, Andrea, Farrow, Emily, Miller, Neil, Kingsmore, Stephen F., Ostergaa

Journal:

The American Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 726 KB

english, 2015

17

Impaired Fetoplacental Angiogenesis in Growth-Restricted Fetuses With Abnormal Umbilical Artery Doppler Velocimetry Is Mediated by Aryl Hydrocarbon Receptor Nuclear Translocator (ARNT)

Su, Emily J., Xin, Hong, Yin, Ping, Dyson, Matthew, Coon, John, Farrow, Kathryn N., Mestan, Karen K., Ernst, Linda M.

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2015

Langue:

english

Fichier:

PDF, 1.73 MB

english, 2015

18

Tumoral Calcinosis

Brown, Whitney W., McCormick, Kenneth L., White, Kenneth E., Garringer, Holly J., Farrow, Emily G.

Journal:

The Endocrinologist

Année:

2008

Langue:

english

Fichier:

PDF, 164 KB

english, 2008

19

An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: A previously undescribed syndrome?

Jackson, Jessica, Delk, Paula, Farrow, Emily, Griffith, Christopher, Lah, Melissa, Weaver, David D.

Journal:

American Journal of Medical Genetics Part A

Année:

2015

Langue:

english

Fichier:

PDF, 4.47 MB

english, 2015

20

Genomic medicine: evolving science, evolving ethics

Soden, Sarah E, Farrow, Emily G, Saunders, Carol J, Lantos, John D

Journal:

Personalized Medicine

Année:

2012

Langue:

english

Fichier:

PDF, 426 KB

english, 2012

21

Recent advances in renal phosphate handling

Farrow, Emily G., White, Kenneth E.

Journal:

Nature Reviews Nephrology (formerly Nature Clinical Practice Nephrology)

Année:

2010

Langue:

english

Fichier:

PDF, 820 KB

english, 2010

22

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes

Thiffault, Isabelle, Saunders, Carol, Jenkins, Janda, Raje, Nikita, Canty, Kristi, Sharma, Mukta, Grote, Lauren, Welsh, Holly I, Farrow, Emily, Twist, Greyson, Miller, Neil, Zwick, David, Zellmer, Lee

Journal:

BMC Medical Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 996 KB

english, 2015

23

Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice

Emily G. Farrow, Xijie Yu, Lelia J. Summers, Siobhan I. Davis, James C. Fleet, Matthew R. Allen, Alexander G. Robling, Keith R. Stayrook, Victoria Jideonwo, Martin J. Magers, Holly J. Garringer, Ruben

Journal:

Proceedings of the National Academy of Sciences

Année:

2011

Langue:

english

Fichier:

PDF, 1.51 MB

english, 2011

24

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

Miller, Neil A., Farrow, Emily G., Gibson, Margaret, Willig, Laurel K., Twist, Greyson, Yoo, Byunggil, Marrs, Tyler, Corder, Shane, Krivohlavek, Lisa, Walter, Adam, Petrikin, Josh E., Saunders, Carol

Journal:

Genome Medicine

Année:

2015

Langue:

english

Fichier:

PDF, 1.96 MB

english, 2015

25

Loss of Function Variants in Human PNPLA8 Encoding Calcium-Independent Phospholipase A 2 γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse

Saunders, Carol J., Moon, Sung Ho, Liu, Xinping, Thiffault, Isabelle, Coffman, Keith, LePichon, Jean-Baptiste, Taboada, Eugenio, Smith, Laurie D., Farrow, Emily G., Miller, Neil, Gibson, Margaret, Pat

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 490 KB

english, 2015

26

Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis

Giardino, Giuliana, Gallo, Vera, Somma, Domenico, Farrow, Emily G., Thiffault, Isabelle, D'Assante, Roberta, Donofrio, Vittoria, Paciolla, Mariateresa, Ursini, Matilde Valeria, Leonardi, Antonio, Saun

Journal:

Journal of Allergy and Clinical Immunology

Année:

2016

Langue:

english

Fichier:

PDF, 1.72 MB

english, 2016

27

PCDH19 -related epileptic encephalopathy in a male mosaic for a truncating variant

Thiffault, Isabelle, Farrow, Emily, Smith, Laurie, Lowry, Jennifer, Zellmer, Lee, Black, Benjamin, Abdelmoity, Ahmed, Miller, Neil, Soden, Sarah, Saunders, Carol

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 162 KB

english, 2016

28

Loss of Function Variants in Human PNPLA8 Encoding Calcium-Independent Phospholipase A 2 γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse

Saunders, Carol J., Moon, Sung Ho, Liu, Xinping, Thiffault, Isabelle, Coffman, Keith, LePichon, Jean-Baptiste, Taboada, Eugenio, Smith, Laurie D., Farrow, Emily G., Miller, Neil, Gibson, Margaret, Pat

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 1.19 MB

english, 2015

29

Alström Syndrome: Mutation Spectrum of ALMS1

Marshall, Jan D., Muller, Jean, Collin, Gayle B., Milan, Gabriella, Kingsmore, Stephen F., Dinwiddie, Darrell, Farrow, Emily G., Miller, Neil A., Favaretto, Francesca, Maffei, Pietro, Dollfus, Hélène,

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 381 KB

english, 2015

30

P-199 Pathogenic CFTR Mutation in Crohnʼs Disease in the Absence of Other CFTR-Related Manifestations

Shakhnovich, Valentina, Katta, Lakshmi, Christenson, Kathy, Bass, Julie, Farrow, Emily, Soden, Sarah, Smith, Laurie, Saunders, Carol

Journal:

Inflammatory Bowel Diseases

Année:

2016

Langue:

english

Fichier:

PDF, 80 KB

english, 2016

31

An Open-Label, Pilot Study of Daily Right Unilateral Ultrabrief Pulse Electroconvulsive Therapy

Rasmussen, Keith G., Johnson, Emily K., Kung, Simon, Farrow, Stacy L., Brown, Sarah K., Govrik, Michael N., Citronowicz, Ron I.

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 125 KB

english, 2016

32

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A

Jay, Allison M., Conway, Robert L., Thiffault, Isabelle, Saunders, Carol, Farrow, Emily, Adams, John, Toriello, Helga V.

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 218 KB

english, 2016

33

Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences

Twist, Greyson P, Gaedigk, Andrea, Miller, Neil A, Farrow, Emily G, Willig, Laurel K, Dinwiddie, Darrell L, Petrikin, Josh E, Soden, Sarah E, Herd, Suzanne, Gibson, Margaret, Cakici, Julie A, Riffel,

Journal:

npj Genomic Medicine

Année:

2016

Langue:

english

Fichier:

PDF, 1.09 MB

english, 2016

34

In vivo characterization of CYP2D612, 29 and *84 using dextromethorphan as a probe drug: a case report

Gaedigk, Andrea, Twist, Greyson P, Farrow, Emily G, Lowry, Jennifer A, Soden, Sarah E, Miller, Neil A

Journal:

Pharmacogenomics

Année:

2017

Langue:

english

Fichier:

PDF, 973 KB

english, 2017

35

The Uncoupling of Autophagy and Zinc Homeostasis in Airway Epithelial Cells as a Fundamental Contributor to COPD

Roscioli, Eugene, Tran, Hai Bac, Jersmann, Hubertus, Nguyen, Phan Tien, Hopkins, Emily, Lester, Susan Elizabeth, Farrow, Nigel, Zalewski, Peter D, Reynolds, Paul N, Hodge, Sandra

Journal:

American journal of physiology. Lung cellular and molecular physiology

Année:

2017

Langue:

english

Fichier:

PDF, 1.20 MB

english, 2017

36

GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant

Giddens, Michelle M., Wong, Jennifer C., Schroeder, Jason P., Farrow, Emily G., Smith, Brilee M., Owino, Sharon, Soden, Sarah E., Meyer, Rebecca C., Saunders, Carol, LePichon, J.B., Weinshenker, David

Journal:

Neurobiology of Disease

Année:

2017

Langue:

english

Fichier:

PDF, 1018 KB

english, 2017

37

Erratum: Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences

Twist, Greyson P, Gaedigk, Andrea, Miller, Neil A, Farrow, Emily G, Willig, Laurel K, Dinwiddie, Darrell L, Petrikin, Josh E, Soden, Sarah E, Herd, Suzanne, Gibson, Margaret, Cakici, Julie A, Riffel,

Journal:

npj Genomic Medicine

Année:

2017

Langue:

english

Fichier:

PDF, 183 KB

english, 2017

38

Erythropoietin stimulates murine and human Fibroblast growth factor-23, revealing novel roles for bone and bone marrow

Clinkenbeard, Erica L., Hanudel, Mark R., Stayrook, Keith R., Appaiah, Hitesh Nidumanda, Farrow, Emily G., Cass, Taryn A., Summers, Lelia J., Ip, Colin S., Hum, Julia M., Thomas, Joseph C., Ivan, Mirc

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 884 KB

english, 2017

39

Cleidocranial Dysplasia

Farrow, Emilie, Nicot, Romain, Wiss, Axel, Laborde, Amélie, Ferri, Joël

Journal:

Journal of Craniofacial Surgery

Année:

2017

Langue:

english

Fichier:

PDF, 478 KB

english, 2017

40

POLR3A variants in hereditary spastic paraplegia and ataxia

Gauquelin, Laurence, Tétreault, Martine, Thiffault, Isabelle, Farrow, Emily, Miller, Neil, Yoo, Byunggil, Bareke, Eric, Yoon, Grace, Suchowersky, Oksana, Dupré, Nicolas, Tarnopolsky, Mark, Brais, Bern

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 158 KB

english, 2018

41

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants

Petrikin, Josh E., Cakici, Julie A., Clark, Michelle M., Willig, Laurel K., Sweeney, Nathaly M., Farrow, Emily G., Saunders, Carol J., Thiffault, Isabelle, Miller, Neil A., Zellmer, Lee, Herd, Suzanne

Journal:

npj Genomic Medicine

Année:

2018

Langue:

english

Fichier:

PDF, 877 KB

english, 2018

42

Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report

Cadieux-Dion, Maxime, Safina, Nicole P., Engleman, Kendra, Saunders, Carol, Repnikova, Elena, Raje, Nikita, Canty, Kristi, Farrow, Emily, Miller, Neil, Zellmer, Lee, Thiffault, Isabelle

Journal:

BMC Medical Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 757 KB

english, 2018

43

Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease

Thiffault, Isabelle, Zuccarelli, Britton, Welsh, Holly, Yuan, Xuan, Farrow, Emily, Zellmer, Lee, Miller, Neil, Soden, Sarah, Abdelmoity, Ahmed, Brodsky, Robert A., Saunders, Carol

Journal:

BMC Medical Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 723 KB

english, 2017

44

Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth

Huusko, Johanna M., Karjalainen, Minna K., Graham, Britney E., Zhang, Ge, Farrow, Emily G., Miller, Neil A., Jacobsson, Bo, Eidem, Haley R., Murray, Jeffrey C., Bedell, Bruce, Breheny, Patrick, Brown,

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 3.59 MB

english, 2018

45

Clinical genome sequencing in an unbiased pediatric cohort

Thiffault, Isabelle, Farrow, Emily, Zellmer, Lee, Berrios, Courtney, Miller, Neil, Gibson, Margaret, Caylor, Raymond, Jenkins, Janda, Faller, Deb, Soden, Sarah, Saunders, Carol

Journal:

Genetics in Medicine

Année:

2018

Langue:

english

Fichier:

PDF, 303 KB

english, 2018

46

Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing

Gallo, Vera, Dotta, Laura, Giardino, Giuliana, Cirillo, Emilia, Lougaris, Vassilios, D’Assante, Roberta, Prandini, Alberto, Consolini, Rita, Farrow, Emily G., Thiffault, Isabelle, Saunders, Carol J.,

Journal:

Frontiers in Immunology

Année:

2016

Langue:

english

Fichier:

PDF, 531 KB

english, 2016

47

Hypophosphatemia with Elevations in Serum Fibroblast Growth Factor 23 in a Child with Jansen’s Metaphyseal Chondrodysplasia

Brown, Whitney W., Jüppner, Harald, Langman, Craig B., Price, Heather, Farrow, Emily G., White, Kenneth E., McCormick, Kenneth L.

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 63 KB

english, 2009

48

Correction: Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth

Huusko, Johanna M., Karjalainen, Minna K., Graham, Britney E., Zhang, Ge, Farrow, Emily G., Miller, Neil A., Jacobsson, Bo, Eidem, Haley R., Murray, Jeffrey C., Bedell, Bruce, Breheny, Patrick, Brown,

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 292 KB

english, 2018

49

On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing

Thiffault, Isabelle, Cadieux-Dion, Maxime, Farrow, Emily, Caylor, Raymond, Miller, Neil, Soden, Sarah, Saunders, Carol

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 469 KB

english, 2018

50

Coming up to Speed on Whole Genome Sequencing in Critically Ill Children

Thiffault, Isabelle, Farrow, Emily, Cadieux-Dion, Maxime, Saunders, Carol J.

Journal:

Advances in Molecular Pathology

Année:

2018

Langue:

english

Fichier:

PDF, 420 KB

english, 2018