Gahl, Mark J. : rechercher sur Z-Library

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1

Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1

Si Houn Hahn, Donna Krasnewich, Mark Brantly, Eli Anne Kvittingen, William A. Gahl

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 719 KB

english, 1995

2

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

Kaler, Stephen G., Gallo, Linda K., Proud, Virginia K., Percy, Alan K., Mark, Yvonne, Segal, Neil A., Goldstein, David S., Holmes, Courtney S., Gahl, William A.

Journal:

Nature Genetics

Année:

1994

Fichier:

PDF, 946 KB

1994

3

Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man

Tyler Mark Pierson, Gary Tart, David Adams, Camilo Toro, Gretchen Golas, Cynthia Tifft, William Gahl

Journal:

Neuromuscular Disorders

Année:

2011

Langue:

english

Fichier:

PDF, 93 KB

english, 2011

4

Poster 1: Physical and functional performance in alkaptonuria

Monique B. Perry, Chanika Phornphutkul, Gloria P. Furst, Mark D. Murphey, William A. Gahl, Lynn H. Gerber

Journal:

Archives of Physical Medicine and Rehabilitation

Année:

2003

Langue:

english

Fichier:

PDF, 24 KB

english, 2003

5

Effect of pirfenidone on the pulmonary fibrosis of Hermansky–Pudlak syndrome

William A Gahl, Mark Brantly, James Troendle, Nilo A Avila, Antonio Padua, Carlos Montalvo, Hilda Cardona, Karim Anton Calis, Bernadette Gochuico

Journal:

Molecular Genetics and Metabolism

Année:

2002

Langue:

english

Fichier:

PDF, 238 KB

english, 2002

6

The fetal concentrating index as a gestational age-independent measure of placental dysfunction in intrauterine growth retardation

Bernardini, Isa, Evans, Mark I., Nicolaides, Kypros H., Economides, Demetrious L., Gahl, William A.

Journal:

American Journal of Obstetrics and Gynecology

Année:

1991

Langue:

english

Fichier:

PDF, 911 KB

english, 1991

7

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

Gahl, William A., Markello, Thomas C., Toro, Camilo, Fajardo, Karin Fuentes, Sincan, Murat, Gill, Fred, Carlson-Donohoe, Hannah, Gropman, Andrea, Pierson, Tyler Mark, Golas, Gretchen, Wolfe, Lynne, Gr

Journal:

Genetics in Medicine

Année:

2012

Langue:

english

Fichier:

PDF, 451 KB

english, 2012

8

Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy

Yuan, Hongjie, Hansen, Kasper B., Zhang, Jing, Mark Pierson, Tyler, Markello, Thomas C., Fajardo, Karin V. Fuentes, Holloman, Conisha M., Golas, Gretchen, Adams, David R., Boerkoel, Cornelius F., Gahl

Journal:

Nature Communications

Année:

2014

Langue:

english

Fichier:

PDF, 1.54 MB

english, 2014

9

Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutaneous Albinism (Hermansky–Pudlak Syndrome)

Gahl, William A., Brantly, Mark, Kaiser-Kupfer, Muriel I., Iwata, Fumino, Hazelwood, Senator, Shotelersuk, Vorasuk, Duffy, Lynn F., Kuehl, Ernest M., Troendle, James, Bernardini, Isa

Journal:

Boston Medical and Surgical Journal

Année:

1998

Langue:

english

Fichier:

PDF, 205 KB

english, 1998

10

Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome

Krasnewich, Donna M., Holt, Gordon D., Brantly, Mark, Skovby, Flemming, Redwine, Jeff, Gahl, William A.

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 1.86 MB

english, 1995

11

Natural History of Alkaptonuria

Phornphutkul, Chanika, Introne, Wendy J., Perry, Monique B., Bernardini, Isa, Murphey, Mark D., Fitzpatrick, Diana L., Anderson, Paul D., Huizing, Marjan, Anikster, Yair, Gerber, Lynn H., Gahl, Willia

Journal:

Boston Medical and Surgical Journal

Année:

2002

Langue:

english

Fichier:

PDF, 256 KB

english, 2002

12

Alveolar Macrophage Dysregulation in Hermansky-Pudlak Syndrome Type 1

Rouhani, Farshid N., Brantly, Mark L., Markello, Thomas C., Helip-Wooley, Amanda, O'Brien, Kevin, Hess, Richard, Huizing, Marjan, Gahl, William A., Gochuico, Bernadette R.

Journal:

American Journal of Respiratory and Critical Care Medicine

Année:

2009

Langue:

english

Fichier:

PDF, 357 KB

english, 2009

13

Metallothionein Synthesis and Degradation in Indian Childhood Cirrhosis Fibroblasts

Hahn, Si Houn, Brantly, Mark L, Oliver, Constance, Adamson, Megan, Kaler, Stephen G, Gahl, William A

Journal:

Pediatric Research

Année:

1994

Langue:

english

Fichier:

PDF, 797 KB

english, 1994

14

Hermansky-Pudlak Syndrome: Radiography and CT of the Chest Compared with Pulmonary Function Tests and Genetic Studies

Avila, Nilo A., Brantly, Mark, Premkumar, Ahalya, Huizing, Marjan, Dwyer, Andrew, Gahl, William A.

Journal:

American Journal of Roentgenology

Année:

2002

Langue:

english

Fichier:

PDF, 7.48 MB

english, 2002

15

A Clinical Service to Support the Return of Secondary Genomic Findings in Human Research

Darnell, Andrew J., Austin, Howard, Bluemke, David A., Cannon, Richard O., Fischbeck, Kenneth, Gahl, William, Goldman, David, Grady, Christine, Greene, Mark H., Holland, Steven M., Hull, Sara Chandros

Journal:

The American Journal of Human Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 331 KB

english, 2016

16

Pulmonary Dysfunction in Adults With Nephropathic Cystinosis

Anikster, Yair, Lacbawan, Felicitas, Brantly, Mark, Gochuico, Bernadette L., Avila, Nilo A., Travis, William, Gahl, William A.

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 1.88 MB

english, 2001

17

Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15B

Mohammad, Saeed, Wolfe, Lynne A., Stöbe, Petra, Biskup, Saskia, Wainwright, Mark S., Melin-Aldana, Hector, Malladi, Padmini, Muenke, Maximilian, Gahl, William A., Whitington, Peter F.

Journal:

The Journal of Pediatrics

Année:

2016

Langue:

english

Fichier:

PDF, 1.80 MB

english, 2016

18

HUMAN FETAL AND MATERNAL PLASMA AMINO ACID LEVELS IN NORMAL AND INTRAUTERINE GROWTH RETARDED (IUGR) GESTATIONS

Gahl, William A, Nicolaides, Kypros H, Bernardini, Isa, Bradley, Robert, Evans, Mark I

Journal:

Pediatric Research

Année:

1987

Langue:

english

Fichier:

PDF, 169 KB

english, 1987

19

Pulmonary Function and High-Resolution CT Findings in Patients With an Inherited Form of Pulmonary Fibrosis, Hermansky-Pudlak Syndrome, Due to Mutations in HPS-1

Brantly, Mark, Avila, Nilo A., Shotelersuk, Vorasuk, Lucero, Cynthia, Huizing, Marjan, Gahl, William A.

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 830 KB

english, 2000

20

Hermansky-Pudlak Syndrome (HPS) as a Genetically Heterogeneous Disease: Clinical, Molecular, and Cell Biological Aspects

Gahl, William A, Shotelersuk, Vorasuk, Brantly, Mark, Huizing, Marjan, Dell'Angelica, Esteban C, Bonifacino, Juan S

Journal:

Pediatric Research

Année:

1999

Fichier:

PDF, 70 KB

1999

21

Hermansky-Pudlak syndrome with a novel genetic variant in HPS1 and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases

McElvaney, Oliver J, Huizing, Marjan, Gahl, William A, O’Donovan, Paul, Horan, Deirdre, Logan, P Mark, Reeves, Emer P, McElvaney, Noel G

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 584 KB

english, 2018

22

Use of a Four-Parameter Logistic Equation to Evaluate the Response of Growing Rats to Ten Levels of Each Indispensable Amino Acid

Gahl, Mark J., Finke, Mark D., Crenshaw, Thomas D., Benevenga, N. J.

Journal:

Journal of Nutrition

Année:

1991

Fichier:

PDF, 1.78 MB

1991

23

Use of a Four-Parameter Logistic Equation to Evaluate the Response of Growing Rats to Ten Levels of Each Indispensable Amino Acid

Gahl, Mark J., Finke, Mark D., Crenshaw, Thomas D., Benevenga, N. J.

Journal:

Journal of Nutrition

Année:

1991

Langue:

english

Fichier:

PDF, 1.78 MB

english, 1991

24

Efficiency of Lysine or Threonine Retention in Growing Rats Fed Diets Limiting in either Lysine or Threonine

Gahl, Mark J., Finke, Mark D., Crenshaw, Thomas D., Benevenga, N. J.

Journal:

Journal of Nutrition

Année:

1996

Langue:

english

Fichier:

PDF, 1.72 MB

english, 1996

25

Role of Protein Synthesis in Amino Acid Catabolism

Benevenga, Norlin J., Gahl, Mark J., Blemings, Ken P.

Journal:

Journal of Nutrition

Année:

1993

Langue:

english

Fichier:

PDF, 462 KB

english, 1993

26

Rates of Lysine Catabolism Are Inversely Related to Rates of Protein Synthesis When Measured Concurrently in Adult Female Rats Induced to Grow at Different Rates

Gahl, Mark J., Benevenga, N. J., Crenshaw, Thomas D.

Journal:

Journal of Nutrition

Année:

1998

Langue:

english

Fichier:

PDF, 487 KB

english, 1998

27

Recombinant Bovine Somatotropin Decreases Hepatic Amino Acid Catabolism in Female Rats

Blemings, Kenneth P., Gahl, Mark J., Crenshaw, Thomas D., Benevenga, Norlin J.

Journal:

Journal of Nutrition

Année:

1996

Fichier:

PDF, 936 KB

1996

28

Recombinant Bovine Somatotropin Decreases Hepatic Amino Acid Catabolism in Female Rats

Blemings, Kenneth P., Gahl, Mark J., Crenshaw, Thomas D., Benevenga, Norlin J.

Journal:

Journal of Nutrition

Année:

1996

Langue:

english

Fichier:

PDF, 936 KB

english, 1996

29

Data-driven method to enhance craniofacial and oral phenotype vocabularies

Mishra, Rashmi, Burke, Andrea, Gitman, Bonnie, Verma, Payal, Engelstad, Mark, Haendel, Melissa A., Alevizos, Ilias, Gahl, William A., Collins, Michael T., Lee, Janice S., Sincan, Murat

Journal:

Journal of the American Dental Association

Année:

2019

Langue:

english

Fichier:

PDF, 297 KB

english, 2019