del Gaudio, Daniela: search on Z-Library

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1

Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency

Paolo Moretti, Sarika U. Peters, Daniela del Gaudio, Trilochan Sahoo, Keith Hyland, Teodoro Bottiglieri, Robert J. Hopkin, Elizabeth Peach, Sang Hee Min, David Goldman, Benjamin Roa, Carlos A. Bacino,

Journal:

Journal of Autism and Developmental Disorders

Year:

2008

Language:

english

File:

PDF, 178 KB

english, 2008

2

Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case

Minor, Agata, Shinawi, Marwan, Hogue, Jacob S., Vineyard, Marisa, Hamlin, Damara R., Tan, Christopher, Donato, Kirsten, Wysinger, Latrice, Botes, Shaun, Das, Soma, del Gaudio, Daniela

Journal:

Year:

2014

Language:

english

File:

PDF, 629 KB

english, 2014

3

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

Nabais SÃ¡, Maria J., El Tekle, Geniver, de Brouwer, Arjan P.M., Sawyer, Sarah L., del Gaudio, Daniela, Parker, Michael J., Kanani, Farah, van den Boogaard, Marie-JosÃ© H., van Gassen, Koen, Van Allen

Journal:

The American Journal of Human Genetics

Year:

2020

Language:

english

File:

PDF, 815 KB

english, 2020

4

Robinow syndrome: Phenotypic variability in a family with a novel intragenic ROR2 mutation

Nicola Brunetti-Pierri, Daniela del Gaudio, Hartmut Peters, Henri Justino, Claus-Eric Ott, Stefan Mundlos, Carlos A. Bacino

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 365 KB

english, 2008

5

Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants

Brandt, Tracy, Sack, Laura M., Arjona, Dolores, Tan, Duanjun, Mei, Hui, Cui, Hong, Gao, Hua, Bean, Lora J. H., Ankala, Arunkanth, Del Gaudio, Daniela, Johnson, Amy Knight, Vincent, Lisa M., Reavey, Ca

Journal:

Genetics in Medicine

Year:

2019

File:

PDF, 251 KB

2019

6

Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis

Weaver, K. Nicole, El Hallek, Moussa, Hopkin, Robert J., Sund, Kristen L., Henrickson, Michael, del Gaudio, Daniela, Yuksel, Adnan, Acar, Gül Ozbilen, Bober, Michael B., Kim, Jinoh, Boyadjiev, Simeon

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 622 KB

english, 2014

7

Liver Damage in Obese Patients

Antonio Del Gaudio, Luca Boschi, Giovanni-Alberto Del Gaudio, Laura Mastrangelo, Daniela Munari

Journal:

Obesity Surgery

Year:

2002

Language:

english

File:

PDF, 87 KB

english, 2002

8

Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

del Gaudio, Daniela, Shinawi, Marwan, Astbury, Caroline, Tayeh, Marwan K., Deak, Kristen L., Raca, Gordana

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 620 KB

2020

9

Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

Sahoo, Trilochan, Cheung, Sau Wai, Ward, Patricia, Darilek, Sandra, Patel, Ankita, del Gaudio, Daniela, Kang, Sung Hae L, Lalani, Seema R, Li, Jiangzhen, McAdoo, Sallie

Journal:

Genetics in Medicine

Year:

2006

Language:

english

File:

PDF, 560 KB

english, 2006

10

Alu -mediated deletion of PIGL in a Patient with CHIME syndrome

Knight Johnson, Amy, Schaefer, Gerald Bradley, Lee, Jennifer, Hu, Ying, del Gaudio, Daniela

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 1001 KB

english, 2017

11

Effects of Direct-Acting Antiviral Agents on the Mental Health of Patients with Chronic Hepatitis C: A Prospective Observational Study

Fabrazzo, Michele, Zampino, Rosa, Vitrone, Martina, Sampogna, Gaia, Del Gaudio, Lucia, Nunziata, Daniela, Agnese, Salvatore, Santagata, Anna, Durante-Mangoni, Emanuele, Fiorillo, Andrea

Journal:

Year:

2020

File:

PDF, 251 KB

2020

12

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

Cheung, Sau Wai, Beaudet, Arthur L, del Gaudio, Daniela, German, Jennifer R, Shinawi, Marwan, Peters, Sarika U, Person, Richard E, Garnica, Adolfo, Sahoo, Trilochan

Journal:

Nature Genetics

Year:

2008

Language:

english

File:

PDF, 332 KB

english, 2008

13

GCK-MODY in the US Monogenic Diabetes Registry: description of 27 unpublished variants

Sanyoura, May, Letourneau, Lisa, Knight Johnson, Amy E., del Gaudio, Daniela, Greeley, Siri Atma W., Philipson, Louis H., Naylor, Rochelle N.

Journal:

Diabetes Research and Clinical Practice

Year:

2019

File:

PDF, 384 KB

2019

14

Detection of clinically relevant exonic copy-number changes by array CGH

Philip M. Boone, Carlos A. Bacino, Chad A. Shaw, Patricia A. Eng, Patricia M. Hixson, Amber N. Pursley, Sung-Hae L. Kang, Yaping Yang, Joanna Wiszniewska, Beata A. Nowakowska, Daniela del Gaudio, Zhil

Journal:

Year:

2010

Language:

english

File:

PDF, 895 KB

english, 2010

15

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

del Gaudio, Daniela, Fang, Ping, Scaglia, Fernando, Ward, Patricia A, Craigen, William J, Glaze, Daniel G, Neul, Jeffrey L, Patel, Ankita, Lee, Jennifer A, Irons, Mira, Berry, Susan A, Pursley, Amber

Journal:

Genetics in Medicine

Year:

2006

Language:

english

File:

PDF, 1.69 MB

english, 2006

16

CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Deignan, Joshua L., Astbury, Caroline, Cutting, Garry R., del Gaudio, Daniela, Gregg, Anthony R., Grody, Wayne W., Monaghan, Kristin G., Richards, Sue

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 300 KB

2020

17

Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA

Sanyoura, May, Jacobsen, Laura, Carmody, David, del Gaudio, Daniela, Alkorta-Aranburu, Gorka, Arndt, Kelly, Hu, Ying, Kobiernicki, Frances, Kusmartseva, Irina, Atkinson, Mark A, Philipson, Louis H, Sc

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2018

Language:

english

File:

PDF, 1.56 MB

english, 2018

18

Response to Mounts and Besser

Raca, Gordana, Shinawi, Marwan, Gaudio, Daniela del

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 218 KB

2020

19

Seizures and EEG pattern in the 22q13.3 deletion syndrome: Clinical report of six Italian cases

Figura, Maria Grazia, Coppola, Antonietta, Bottitta, Maria, Calabrese, Giuseppe, Grillo, Lucia, Luciano, Daniela, Del Gaudio, Luigi, Torniero, Claudia, Striano, Salvatore, Elia, Maurizio

Journal:

Year:

2014

Language:

english

File:

PDF, 1.39 MB

english, 2014

20

LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining

Oshima, Junko, Lee, Jennifer A, Breman, Amy M, Fernandes, Priscilla H, Babovic-Vuksanovic, Dusica, Ward, Patricia A, Wolfe, Lynne A, Eng, Christine M, del Gaudio, Daniela

Journal:

Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 631 KB

english, 2011

21

Clinical utility of next-generation sequencing for the molecular diagnosis of monogenic diabetes

Johnson, Amy Knight, Gaudio, Daniela del

Journal:

Personalized Medicine

Year:

2014

Language:

english

File:

PDF, 961 KB

english, 2014

22

FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

Hwang, Jessica L, Park, Soo-Young, Ye, Honggang, Sanyoura, May, Pastore, Ashley N, Carmody, David, del Gaudio, Daniela, Wilson, Janna F, Hanis, Craig L, Liu, Xiaoming, Atzmon, Gil, Glaser, Benjamin, P

Journal:

Pediatric Diabetes

Year:

2017

Language:

english

File:

PDF, 1.09 MB

english, 2017

23

GCK-MODY in the US Monogenic Diabetes Registry: description of 27 unpublished variants

Sanyoura, May, Letourneau, Lisa, Knight Johnson, Amy E., del Gaudio, Daniela, Greeley, Siri Atma W., Philipson, Louis H., Naylor, Rochelle N.

Journal:

Diabetes Research and Clinical Practice

Year:

2019

Language:

english

File:

PDF, 384 KB

english, 2019

24

Differential expression of duplicated genes for prothymosin alpha during zebrafish development

Aldo Donizetti, Daniela Liccardo, Daniela Esposito, Rosanna Del Gaudio, Annamaria Locascio, Diana Ferrara, Sergio Minucci, Francesco Aniello

Journal:

Developmental Dynamics

Year:

2008

Language:

english

File:

PDF, 500 KB

english, 2008

25

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization

Daniela del Gaudio, Yaping Yang, Barbara A. Boggs, Eric S. Schmitt, Jennifer A. Lee, Trilochan Sahoo, Hoang T. Pham, Joanna Wiszniewska, A. Craig Chinault, Arthur L. Beaudet, Christine M. Eng

Journal:

Year:

2008

Language:

english

File:

PDF, 389 KB

english, 2008

26

The effect of residual water on antacid properties of sucralfate gel dried by microwaves

Alessandro Gainotti, Elena Losi, Paolo Colombo, Patrizia Santi, Fabio Sonvico, Daniela Baroni, Gina Massimo, Gaia Colombo, Pasquale Del Gaudio

Journal:

AAPS PharmSciTech

Year:

2006

Language:

english

File:

PDF, 159 KB

english, 2006

27

MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation

Pfau, Ruthann B., Thrush, Devon Lamb, Hamelberg, Elizabeth, Bartholomew, Dennis, Botes, Shaun, Pastore, Matthew, Tan, Christopher, del Gaudio, Daniela, Gastier-Foster, Julie M., Astbury, Caroline

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 756 KB

english, 2013

28

Dystrophinopathy in Girls With Limb Girdle Muscular Dystrophy Phenotype

Golla, Sailaja, Agadi, Satish, Burns, Dennis K, Marks, Warren, Dev Batish, Sat, del Gaudio, Daniela, Iannaccone, Susan T

Journal:

Journal of Clinical Neuromuscular Disease

Year:

2010

Language:

english

File:

PDF, 377 KB

english, 2010

29

Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants

Brandt, Tracy, Sack, Laura M., Arjona, Dolores, Tan, Duanjun, Mei, Hui, Cui, Hong, Gao, Hua, Bean, Lora J. H., Ankala, Arunkanth, Del Gaudio, Daniela, Knight Johnson, Amy, Vincent, Lisa M., Reavey, Ca

Journal:

Genetics in Medicine

Year:

2019

Language:

english

File:

PDF, 627 KB

english, 2019

30

Fatigue damage analysis of notched carbon/epoxy composite by spate and finite element method

Pfau, Ruthann B., Thrush, Devon Lamb, Hamelberg, Elizabeth, Bartholomew, Dennis, Botes, Shaun, Pastore, Matthew, Tan, Christopher, del Gaudio, Daniela, Gastier-Foster, Julie M., Astbury, Caroline

Journal:

NDT & E International

Year:

1993

Language:

english

File:

PDF, 159 KB

english, 1993

31

Is driving in a hot vehicle safe?

Lenzuni, Paolo, Capone, Pasquale, Freda, Daniela, del Gaudio, Michele

Journal:

International Journal of Hyperthermia

Year:

2014

Language:

english

File:

PDF, 780 KB

english, 2014

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