Search Results - "KLEIN STEVEN D" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes

Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes

by Mullegama, Sureni V., Klein, Steven D., Williams, Stephen R., Innis, Jeffrey W., Probst, Frank J., Haldeman-Englert, Chad, Martinez-Agosto, Julian A., Yang, Ying, Tian, Yuchen, Elsea, Sarah H., Ezashi, Toshihiko
Published in Scientific reports (28.05.2021)

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Journal Article

Epigenetic mosaicism and cell burden in Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2

Epigenetic mosaicism and cell burden in Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2

by Duffy, Kelly A, Hathaway, Evan R, Klein, Steven D, Ganguly, Arupa, Kalish, Jennifer M
Published in Cold Spring Harbor molecular case studies (01.12.2021)

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Journal Article

Hotspot Mutations in DICER1 Causing GLOW Syndrome-Associated Macrocephaly via Modulation of Specific microRNA Populations Result in the Activation of PI3K/ATK/mTOR Signaling

Hotspot Mutations in DICER1 Causing GLOW Syndrome-Associated Macrocephaly via Modulation of Specific microRNA Populations Result in the Activation of PI3K/ATK/mTOR Signaling

by Klein, Steven D, Martinez-Agosto, Julian A
Published in MicroRNA (Shariqah, United Arab Emirates) (01.01.2020)

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Journal Article

Overgrowth syndromes, diagnosis and management

Overgrowth syndromes, diagnosis and management

by Klein, Steven D, Nisbet, Alex, Kalish, Jennifer M
Published in Current opinion in pediatrics (01.12.2023)

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Journal Article

Pancreas divisum, an evidence-based review: part I, pathophysiology

Pancreas divisum, an evidence-based review: part I, pathophysiology

by Klein, Steven D., Affronti, John P.
Published in Gastrointestinal endoscopy (01.09.2004)

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Journal Article

Update on surveillance for Wilms tumor and hepatoblastoma in Beckwith-Wiedemann Syndrome and other predisposition syndromes

Update on surveillance for Wilms tumor and hepatoblastoma in Beckwith-Wiedemann Syndrome and other predisposition syndromes

by Kalish, Jennifer M, Becktell, Kerri D, Bougeard, Gaëlle, Brodeur, Garrett M, Diller, Lisa R, Doria, Andrea S, Hansford, Jordan R, Klein, Steven D, Kohlmann, Wendy K, Kratz, Christian P, MacFarland, Suzanne P, Pajtler, Kristian W, Rednam, Surya P, Schienda, Jaclyn, States, Lisa J, Villani, Anita, Weksberg, Rosanna, Zelley, Kristin, Tomlinson, Gail E, Brzezinski, Jack J
Published in Clinical cancer research (25.09.2024)

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Journal Article

Phenotypic spectrum and tumor risk in Simpson‐Golabi‐Behmel syndrome: Case series and comprehensive literature review

Phenotypic spectrum and tumor risk in Simpson‐Golabi‐Behmel syndrome: Case series and comprehensive literature review

by Nisbet, Alex F., Viswanathan, Aravind, George, Andrew M., Arias, Pedro, Klein, Steven D., Nevado, Julian, Parra, Alejandro, Pascual, Patricia, Romeo, Dominic J., Tenorio‐Castaño, Jair, Taylor, Jesse A., Zackai, Elaine H., Lapunzina, Pablo, Kalish, Jennifer M.
Published in American journal of medical genetics. Part A (01.12.2024)

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Journal Article

Occurrence of Hepatoblastomas in Patients with Beckwith-Wiedemann Spectrum (BWSp)

Occurrence of Hepatoblastomas in Patients with Beckwith-Wiedemann Spectrum (BWSp)

by Klein, Steven D, DeMarchis, Madison, Linn, Rebecca L, MacFarland, Suzanne P, Kalish, Jennifer M
Published in Cancers (29.04.2023)

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Journal Article

Mutations in the sonic hedgehog pathway cause macrocephaly‐associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway

Mutations in the sonic hedgehog pathway cause macrocephaly‐associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway

by Klein, Steven D., Nguyen, Dzung C., Bhakta, Viraj, Wong, Derek, Chang, Vivian Y., Davidson, Tom B., Martinez‐Agosto, Julian A.
Published in American journal of medical genetics. Part A (01.12.2019)

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Journal Article

De novo loss‐of‐function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies

De novo loss‐of‐function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies

by Mullegama, Sureni V., Klein, Steven D., Mulatinho, Milene V., Senaratne, Tharanga Niroshini, Singh, Kathryn, Nguyen, Dzung C., Gallant, Natalie M., Strom, Samuel P., Ghahremani, Shahnaz, Rao, Nagesh P., Martinez‐Agosto, Julian A.
Published in American journal of medical genetics. Part A (01.05.2017)

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Journal Article

Mutations in STAG2 cause an X‐linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males

Mutations in STAG2 cause an X‐linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males

by Mullegama, Sureni V., Klein, Steven D., Signer, Rebecca H., Vilain, Eric, Martinez‐Agosto, Julian A.
Published in Molecular genetics & genomic medicine (01.02.2019)

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Journal Article

Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?

Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?

by Mullegama, Sureni V, Klein, Steven D, Nguyen, Dzung C, Kim, Arang, Signer, Rebecca, Fox, Michelle, Dorrani, Naghmeh, Hendershot, Andrea, Mardach, Rebecca, Suddath, Robert, Dipple, Katrina, Vilain, Eric, Wong, Derek A, Deignan, Joshua L, D. Cederbaum, Stephen, Grody, Wayne W, Martinez-Agosto, Julian A
Published in Genetics in medicine (01.12.2017)

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Journal Article

Pancreas divisum, an evidence-based review: part II, patient selection and treatment

Pancreas divisum, an evidence-based review: part II, patient selection and treatment

by Klein, Steven D., Affronti, John P.
Published in Gastrointestinal endoscopy (01.10.2004)

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Journal Article

Response

Response

by Klein, Steven D., Affronti, John P.
Published in Gastrointestinal endoscopy (01.04.2005)

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Journal Article

Musical instrument mute retention assembly with perpendicular mounting flange

Musical instrument mute retention assembly with perpendicular mounting flange

by Klein, Steven D
Year of Publication 17.03.2020

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Patent

Musical Instrument Mute Retention Assembly with Perpendicular Mounting Flange

Musical Instrument Mute Retention Assembly with Perpendicular Mounting Flange

by Klein, Steven D
Year of Publication 08.08.2019

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Patent

MUTE RACK WITH PALETTE SHAPE AND MULTIPLE RETENTION HOLES

MUTE RACK WITH PALETTE SHAPE AND MULTIPLE RETENTION HOLES

by Klein, Steven D
Year of Publication 17.01.2019

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Patent

Torque-based directional control in steer-by-wire steering systems

Torque-based directional control in steer-by-wire steering systems

by Klein, Steven D, Hales, Michael K, Trewhella, Nicholas M
Year of Publication 15.08.2023

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Patent

Pancreas divisum as the etiology of acute pancreatitis in children

Pancreas divisum as the etiology of acute pancreatitis in children

by DeBanto, John R.
Published in Gastrointestinal endoscopy (01.04.2005)

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Journal Article

MULTI-ARM SWIVELING MUTE RACK

MULTI-ARM SWIVELING MUTE RACK

by Klein, Steven D
Year of Publication 05.07.2018

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Patent