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Journal Articles

EPHB4 Mutation Suppresses PROX1 Expression and Disrupts Lymphatic Development in Neonatal Hydrops

Gangaram Akangire, MD, MS, FAAP, Heather Menden, MS, Sheng Xia, PhD, Isabelle Thiffault, PhD, FABMGG, Atif Ahmed, MD ...

Pediatrics (2022) 149 (3): e2021053294.

Published: February 2022

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Includes: Supplementary data

Journal Articles

Relationship Between Severity of T cell Lymphopenia and Immune Dysregulation in Patients With DiGeorge Syndrome (22q11.2 Deletions and/or Related TBX1 Mutations): A USIDNET Study

Kelli W. Williams, MD, MPH

Pediatrics (2021) 148 (Supplement 3): S68–S69.

Published: December 2021

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Journal Articles

Emergence of Developmental Delay in Infants and Toddlers With an FMR1 Mutation

Anne C. Wheeler, PhD, Angela Gwaltney, PhD, Melissa Raspa, PhD, Katherine C. Okoniewski, PhD, Elizabeth Berry-Kravis, MD, PhD ...

Pediatrics (2021) 147 (5): e2020011528.

Published: May 2021

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Includes: Supplementary data

Journal Articles

Discovery of a Novel Mutation in the Excision Repair Cross-Complementing 1 Gene in a Teenage Patient with Cerebro-Oculo-Facio-Skeletal Syndrome

Rachel A. Nyenhuis, Jane Gibson, PhD

Pediatrics (2021) 147 (3_MeetingAbstract): 863.

Published: March 2021

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Journal Articles

PIGA Mutations Can Mimic Neonatal Hemochromatosis

Jaime Flores-Torres, MD, Jane D. Carver, PhD, Amarilis Sanchez-Valle, MD

Pediatrics (2021) 147 (3): e20200918.

Published: March 2021

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Journal Articles

Congenital Chylothorax and Hydrops Fetalis: A Novel Neonatal Presentation of RASA1 Mutation

Alessia Gallipoli, MD, Gillian MacLean, MBChB, FRCPC, Jagdeep S. Walia, MBBS, FRCPC, FCCMG, Anupam Sehgal, MBBS, DNB

Pediatrics (2021) 147 (3): e2020011601.

Published: March 2021

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Journal Articles

Ebstein's Anomaly and Left Ventricular Non-Compaction in Association With A Novel MYH7 Gene Mutation

Blake Cirks, MD, Joseph W. May, MD, Michael Mulreany, MD, Matthew Needleman, MD, FACC, FHRS, Clesson Turner, MD ...

Pediatrics (2021) 147 (3_MeetingAbstract): 1037–1039.

Published: March 2021

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Journal Articles

Cardiac Complications of Chromosome 8 Mutation in 12 year old male

Mohamed S. Kuziez, MD, Francisco Diaz, MD, Cid Quintana, MD

Pediatrics (2021) 147 (3_MeetingAbstract): 336–337.

Published: March 2021

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Journal Articles

Severe Lymphatic Disorder Resolved With MEK Inhibition in a Patient With Noonan Syndrome and SOS1 Mutation

Yoav Dori, MD, PhD, Chris Smith, MD, PhD, Erin Pinto, NP, Kristen Snyder, MD, Michael E. March, PhD ...

Pediatrics (2020) 146 (6): e20200167.

Published: December 2020

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Journal Articles

Knee Joint Swelling at Presentation: A Case of Pediatric Crohn Disease With a TNFAIP3 Mutation

Dongmei Zou, MM, Shaoming Zhou, MM, Huanhuan Wang, MM, Jing Gou, MM, Shaohua Wang, PhD

Pediatrics (2020) 146 (6): e20193416.

Published: December 2020

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Journal Articles

Homozygous GDF2-Related Hereditary Hemorrhagic Telangiectasia in a Chinese Family

Jinrong Liu, MD, Jigang Yang, MD, Xiaolei Tang, MD, Huimin Li, MD, Yuelin Shen, MD ...

Pediatrics (2020) 146 (2): e20191970.

Published: August 2020

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Journal Articles

Subacute Neuropsychiatric Syndrome in Girls With SHANK3 Mutations Responds to Immunomodulation

Alexandra L. Bey, MD, PhD, Mark P. Gorman, MD, William Gallentine, DO, Teresa M. Kohlenberg, MD, Jennifer Frankovich, MD, MS ...

Pediatrics (2020) 145 (2): e20191490.

Published: February 2020

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Journal Articles

Jakinibs for the Treatment of Immune Dysregulation in Patients With Gain–of–Function Signal Transducer and Activator of Transcription 1 (STAT1) or STAT3 Mutations

Kelli W. Williams, MD, MPH

Pediatrics (2019) 144 (Supplement_1): S62–S63.

Published: December 2019

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Journal Articles

Golodirsen Leads to Sarcolemmal Dystrophin Expression in Patients With Genetic Mutations Amenable to Exon 53 Skipping

Diane E. Frank, PhD, Francesco Muntoni, MD, Jennifer Morgan, PhD, Joana Domingos, MD, Frederick Schnell, PhD ...

Pediatrics (2019) 144 (2_MeetingAbstract): 241.

Published: August 2019

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Journal Articles

Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome

Sonia Melo Gomes, MD, Cristina Dias, MD, Ebun Omoyinmi, PhD, Sandrine Compeyrot-Lacassagne, MD, Nigel Klein, MD ...

Pediatrics (2019) 144 (1): e20181741.

Published: July 2019

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Journal Articles

Beyond an Obvious Cause of Cholestasis in a Toddler: Compound Heterozygosity for ABCB11 Mutations

Maria Fotoulaki, MD, Styliani Giza, MD, Milan Jirsa, MD, Tassos Grammatikopoulos, MD, Rosa Miquel, MD ...

Pediatrics (2019) 143 (5): e20182146.

Published: May 2019

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Journal Articles

Mutation in ITCH Gene Can Cause Syndromic Multisystem Autoimmune Disease With Acute Liver Failure

Nicola Kleine-Eggebrecht, MD, Christian Staufner, MD, Simone Kathemann, MD, Magdeldin Elgizouli, MD, Robert Kopajtich, PhD ...

Pediatrics (2019) 143 (2): e20181554.

Published: February 2019

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Journal Articles

A 6-Year-Old Child With Citrin Deficiency and Advanced Hepatocellular Carcinoma

Limin Wang, MD, Lifeng Wang, MD, Shishu Zhu, MD, Min Zhang, MD, Yi Dong, MD ...

Pediatrics (2019) 143 (1): e20181931.

Published: January 2019

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Journal Articles

Renal Amyloidosis in Deficiency of Adenosine Deaminase 2: Successful Experience With Canakinumab

Rabia Miray Kisla Ekinci, MD, Sibel Balci, MD, Atil Bisgin, MD, Michael Hershfield, MD, Bahriye Atmis, MD ...

Pediatrics (2018) 142 (5): e20180948.

Published: November 2018

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Journal Articles

Catatonia Associated With a SCN2A-Related Disorder in a 4-Year-Old Child

Arnaud Leroy, MD, Claire Corfiotti, MD, Sylvie Nguyen The Tich, MD, Vladimir Ferrafiat, MD, Ali Amad, MD ...

Pediatrics (2018) 142 (5): e20181231.

Published: November 2018

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Includes: Multimedia, Supplementary data

2 3 4 5

NARROW

EPHB4 Mutation Suppresses PROX1 Expression and Disrupts Lymphatic Development in Neonatal Hydrops

Relationship Between Severity of T cell Lymphopenia and Immune Dysregulation in Patients With DiGeorge Syndrome (22q11.2 Deletions and/or Related TBX1 Mutations): A USIDNET Study

Emergence of Developmental Delay in Infants and Toddlers With an FMR1 Mutation

Discovery of a Novel Mutation in the Excision Repair Cross-Complementing 1 Gene in a Teenage Patient with Cerebro-Oculo-Facio-Skeletal Syndrome

PIGA Mutations Can Mimic Neonatal Hemochromatosis

Congenital Chylothorax and Hydrops Fetalis: A Novel Neonatal Presentation of RASA1 Mutation

Ebstein's Anomaly and Left Ventricular Non-Compaction in Association With A Novel MYH7 Gene Mutation

Cardiac Complications of Chromosome 8 Mutation in 12 year old male

Severe Lymphatic Disorder Resolved With MEK Inhibition in a Patient With Noonan Syndrome and SOS1 Mutation

Knee Joint Swelling at Presentation: A Case of Pediatric Crohn Disease With a TNFAIP3 Mutation

Homozygous GDF2-Related Hereditary Hemorrhagic Telangiectasia in a Chinese Family

Subacute Neuropsychiatric Syndrome in Girls With SHANK3 Mutations Responds to Immunomodulation

Jakinibs for the Treatment of Immune Dysregulation in Patients With Gain–of–Function Signal Transducer and Activator of Transcription 1 (STAT1) or STAT3 Mutations

Golodirsen Leads to Sarcolemmal Dystrophin Expression in Patients With Genetic Mutations Amenable to Exon 53 Skipping

Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome

Beyond an Obvious Cause of Cholestasis in a Toddler: Compound Heterozygosity for ABCB11 Mutations

Mutation in ITCH Gene Can Cause Syndromic Multisystem Autoimmune Disease With Acute Liver Failure

A 6-Year-Old Child With Citrin Deficiency and Advanced Hepatocellular Carcinoma

Renal Amyloidosis in Deficiency of Adenosine Deaminase 2: Successful Experience With Canakinumab

Catatonia Associated With a SCN2A-Related Disorder in a 4-Year-Old Child

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