Rodan, Lance: search on Z-Library

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1

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Blok, Lot Snijders, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie

Journal:

Nature Communications

Year:

2019

Language:

english

File:

PDF, 492 KB

english, 2019

2

Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders

Aldubayan, Saud H., Rodan, Lance H., Berry, Gerard T., Levy, Harvey L.

Journal:

Pediatric Emergency Care

Year:

2017

Language:

english

File:

PDF, 767 KB

english, 2017

3

Polymicrogyria is associated with pathogenic variants in PTEN

Shao, Diane D., Achkar, Christelle M., Lai, Abbe, Srivastava, Siddharth, Doan, Ryan N., Rodan, Lance H., Chen, Allen Y., Poduri, Annapurna, Yang, Edward, Walsh, Christopher A., Irons, Mira B., Johnson

Journal:

Annals of Neurology

Year:

2020

File:

PDF, 2.29 MB

2020

4

Stroke recurrence in children with congenital heart disease

Lance Rodan, Brian W. McCrindle, Cedric Manlhiot, Daune L. MacGregor, Rand Askalan, Mahendra Moharir, Gabrielle deVeber

Journal:

Annals of Neurology

Year:

2012

Language:

english

File:

PDF, 781 KB

english, 2012

5

L-arginine effects on cerebrovascular reactivity, perfusion and neurovascular coupling in MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) syndrome

Rodan, Lance H., Poublanc, Julien, Fisher, Joseph A., Sobczyk, Olivia, Mikulis, David J., Tein, Ingrid, De Rosa, Salvatore

Journal:

Year:

2020

File:

PDF, 2.70 MB

2020

6

Clinical Use of CSF Neurotransmitters

Rodan, Lance H., Gibson, K. Michael, Pearl, Phillip L.

Journal:

Pediatric Neurology

Year:

2015

Language:

english

File:

PDF, 947 KB

english, 2015

7

Serine Deficiency in a Child with Neurological Presentation, Hearing Loss, and Multiple Congenital Anomalies

Almontashiri, Naif A.M., Rodan, Lance H., Peake, Roy W.A.

Journal:

Clinical Chemistry

Year:

2018

Language:

english

File:

PDF, 202 KB

english, 2018

8

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie

Journal:

Nature Communications

Year:

2018

Language:

english

File:

PDF, 1.65 MB

english, 2018

9

De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay

Yang, Hui, Douglas, Ganka, Monaghan, Kristin G., Retterer, Kyle, Cho, Megan T., Escobar, Luis F., Tucker, Megan E., Stoler, Joan, Rodan, Lance H., Stein, Diane, Marks, Warren, Enns, Gregory M., Platt,

Journal:

Molecular Case Studies

Year:

2015

Language:

english

File:

PDF, 1.00 MB

english, 2015

10

Systemic Manifestations in Pyridox(am)ine Phosphate Oxidase (PNPO) Deficiency

Guerriero, Réjean M., Patel, Archana A., Walsh, Brian, Baumer, Fiona M., Shah, Ankoor S., Peters, Jurriaan M., Rodan, Lance H., Agrawal, Pankaj B., Pearl, Phillip L., Takeoka, Masanori

Journal:

Pediatric Neurology

Year:

2017

Language:

english

File:

PDF, 1.44 MB

english, 2017

11

5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination

Rodan, Lance H., Qi, Wanshu, Ducker, Gregory S., Demirbas, Didem, Laine, Regina, Yang, Edward, Walker, Melissa A., Eichler, Florian, Rabinowitz, Joshua D., Anselm, Irina, Berry, Gerard T.

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 3.23 MB

english, 2018

12

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie

Journal:

Nature Communications

Year:

2019

Language:

english

File:

PDF, 466 KB

english, 2019

13

The clinical-phenotype continuum in DYNC1H1-related disordersâgenomic profiling and proposal for a novel classification

Becker, Lena-Luise, Dafsari, Hormos Salimi, Schallner, Jens, Abdin, Dalia, Seifert, Michael, Petit, Florence, Smol, Thomas, Bok, Levinus, Rodan, Lance, Krapels, Ingrid, Spranger, Stephanie, Weschke, B

Journal:

Journal of Human Genetics

Year:

2020

File:

PDF, 3.31 MB

2020

14

Raised Anion Gap Metabolic Acidosis in a 4-Day-Old Child

Peake, Roy W.A., Rodan, Lance H.

Journal:

Clinical Chemistry

Year:

2017

Language:

english

File:

PDF, 396 KB

english, 2017

15

Transient regional cerebral hypoperfusion during a paroxysmal hemiplegic event in GLUT1 deficiency syndrome

Almuqbil, Mohamed, Rivkin, Michael J., Takeoka, Masanori, Yang, Edward, Rodan, Lance H.

Journal:

European Journal of Paediatric Neurology

Year:

2018

Language:

english

File:

PDF, 1.41 MB

english, 2018

16

Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway

Shayota, Brian J., Donti, Taraka R., Xiao, Jing, Gijavanekar, Charul, Kennedy, Adam D., Hubert, Leroy, Rodan, Lance, Vanderpluym, Christina, Nowak, Catherine, Bjornsson, Hans T., Ganetzky, Rebecca, Be

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 1.07 MB

2020

17

Homozygous deletion of 21q22.2 in a patient with hypotonia, developmental delay, cortical visual impairment, and retinopathy

Hildebrandt, Clara, Fulton, Anne, Rodan, Lance H.

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 979 KB

2020

18

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie

Journal:

Nature Communications

Year:

2019

File:

PDF, 466 KB

2019

19

Clinical heterogeneity associated withKCNA1mutations include cataplexy and nonataxic presentations

Brownstein, Catherine A., Beggs, Alan H., Rodan, Lance, Shi, Jiahai, Towne, Meghan C., Pelletier, Renee, Cao, Siqi, Rosenberg, Paul A., Urion, David K., Picker, Jonathan, Tan, Wen-Hann, Agrawal, Panka

Journal:

Year:

2016

Language:

english

File:

PDF, 1.15 MB

english, 2016

20

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene

Rodan, Lance H, Cohen, Julia, Fatemi, Ali, Gillis, Tammy, Lucente, Diane, Gusella, James, Picker, Jonathan D

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 124 KB

english, 2016

21

Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency

Sacharow, Stephanie J., Dudenhausen, Elizabeth E., Lomelino, Carrie L., Rodan, Lance, El Achkar, Christelle Moufawad, Olson, Heather E., Genetti, Casie A., Agrawal, Pankaj B., McKenna, Robert, Kilberg

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 1.09 MB

english, 2017

22

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene

Rodan, Lance H, Cohen, Julie, Fatemi, Ali, Gillis, Tammy, Lucente, Diane, Gusella, James, Picker, Jonathan D

Journal:

European Journal of Human Genetics

Year:

2016

File:

PDF, 36 KB

2016

23

VAC14 gene‐related parkinsonism‐dystonia with response to deep brain stimulation

Gusmao, Claudio M., Stone, Scellig, Waugh, Jeff L., Yang, Edward, Lenk, Guy M., Rodan, Lance H.

Journal:

Movement Disorders Clinical Practice

Year:

2019

Language:

english

File:

PDF, 541 KB

english, 2019

24

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects

Duncan, Anna R., Vitobello, Antonio, Collins, Stephan C., Vancollie, Valerie E., Lelliott, Christopher J., Rodan, Lance, Shi, Jiahai, Seman, Ann R., Agolini, Emanuele, Novelli, Antonio, Prontera, Paol

Journal:

The American Journal of Human Genetics

Year:

2020

File:

PDF, 516 KB

2020

25

The Kroc Foundation Conference on Functional Adaptation in Bone Tissue

Stephen C. Cowin, Lance E. Lanyon, Gideon Rodan

Journal:

Calcified Tissue International

Year:

1984

Language:

english

File:

PDF, 951 KB

english, 1984

26

Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies

Rodan, Lance H., Hauptman, Marissa, D'Gama, Alissa M., Qualls, Anita E., Cao, Siqi, Tuschl, Karin, Al-Jasmi, Fatma, Hertecant, Jozef, Hayflick, Susan J., Wessling-Resnick, Marianne, Yang, Edward T., B

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 1.06 MB

english, 2018

27

Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities

Rodan, Lance H., Anyane-Yeboa, Kwame, Chong, Karen, Klein Wassink-Ruiter, Jolien S., Wilson, Ashley, Smith, Lacey, Kothare, Sanjeev V., Rajabi, Farrah, Blaser, Susan, Ni, Min, DeBerardinis, Ralph J.,

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 2.00 MB

english, 2018

28

Acute Illness Protocol for Urea Cycle Disorders

Rodan, Lance H., Aldubayan, Saud H., Berry, Gerard T., Levy, Harvey L.

Journal:

Pediatric Emergency Care

Year:

2017

Language:

english

File:

PDF, 324 KB

english, 2017

29

[JIMD Reports] || N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels

Rodan, Lance H.

Year:

2016

Language:

english

File:

PDF, 183 KB

english, 2016

30

Ethylmalonic Aciduria in an Infant with Neurological and Skin Presentation

Peake, Roy W.A., Rodan, Lance H.

Journal:

Clinical Chemistry

Year:

2017

Language:

english

File:

PDF, 359 KB

english, 2017

31

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Blok, Lot Snijders, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie

Journal:

Nature Communications

Year:

2019

File:

PDF, 492 KB

2019

32

Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome

Rodan, Lance H., Zak, Maria, Stavropoulos, James, Joseph-George, Ann M., Minassian, Berge A.

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 426 KB

english, 2016

33

Acute Illness Protocol for Maple Syrup Urine Disease

Rodan, Lance H., Aldubayan, Saud H., Berry, Gerard T., Levy, Harvey L.

Journal:

Pediatric Emergency Care

Year:

2017

Language:

english

File:

PDF, 292 KB

english, 2017

34

The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases

Ebrahimi-Fakhari, Darius, Hildebrandt, Clara, Davis, Peter E., Rodan, Lance H., Anselm, Irina, Bodamer, Olaf

Journal:

Movement Disorders Clinical Practice

Year:

2017

Language:

english

File:

PDF, 560 KB

english, 2017

35

Recessive mutations in VPS13D cause childhood-onset movement disorders

Gauthier, Julie, Meijer, Inge A., Lessel, Davor, Mencacci, Niccolò E., Krainc, Dimitri, Hempel, Maja, Tsiakas, Konstantinos, Prokisch, Holger, Rossignol, Elsa, Helm, Margaret H., Rodan, Lance H., Kara

Journal:

Annals of Neurology

Year:

2018

Language:

english

File:

PDF, 1.23 MB

english, 2018

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