Skip to contents

Rehman, Atteeq U. [Author]; Najafi, Maryam [Author]; Kambouris, Marios [Author]; Al-Gazali, Lihadh [Author]; Makrythanasis, Periklis [Author]; Rad, Abolfazl [Author]; Maroofian, Reza [Author]; Rajab, Anna [Author]; Stark, Zornitza [Author]; Hunter, Jill V. [Author]; Bakey, Zeineb [Author]; Tokita, Mari J. [Author]; He, Weimin [Author]; Vetrini, Francesco [Author]; Petersen, Andrea [Author]; Santoni, Federico A. [Author]; Hamamy, Hanan [Author]; Wu, Kaman [Author]; Jasmi, Fatma Al [Author]; Helmstädter, Martin [Author]; Arnold, Sebastian Johannes [Author]; Xia, Fan [Author]; Richmond, Christopher [Author]; Liu, Pengfei [Author]; [...]

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

View online
Schließen

Access

... to E-book (Volltext ; freely accessible)

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

New York, NY [u.a.]: Wiley, 2019

Published in: Human mutation ; 40, 3 (2019), 267-280
Vetrini, Francesco; Ng, Philip

Gene Therapy with Helper-Dependent Adenoviral Vectors: Current Advances and Future Perspectives

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

MDPI AG, 2010

Published in: Viruses, 2 (2010) 9, Seite 1886-1917
Khurram Liaqat; Francesco Vetrini; Erin Conboy; Kayla Treat; Kevin Booth

P322: Case report: A splice site variant in COL4A6 may cause recurrent stroke

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

2024

Published in: Genetics in Medicine Open, 2 (2024)
Walters, James; Treat, Kayla; Conboy, Erin; Vetrini, Francesco

eP271: Bi-allelic loss of function variant of the ACTG2 gene that proposes a potential novel mechanism for visceral myopathies

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Elsevier BV, 2022

Published in: Genetics in Medicine, 24 (2022) 3, Seite S171
Liaqat, Khurram; Treat, Kayla; Mantcheva, Lili; Nasir, Abdul; Weaver, David D.; Conboy, Erin; Vetrini, Francesco

A case of MBTPS1‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Wiley, 2024

Published in: American Journal of Medical Genetics Part A, 194 (2024) 5
Liaqat, Khurram; Treat, Kayla; Wilson, Theodore E.; Conboy, Erin; Vetrini, Francesco

Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Wiley, 2024

Published in: Clinical Genetics, 105 (2024) 4, Seite 455-456
Reynold Ly; Kayla Treat; Brett Graham; Erin Conboy; Anna Boccaccio; Francesco Vetrini

P237: A de novo gain-of-function ANO5 variant in a patient with anoctaminopathy5-related muscular dystrophy challenges the skeletal/muscular phenotype dichotomy into question

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

2023

Published in: Genetics in Medicine Open, 1 (2023) 1
Indugula, Subba Rao; Ayala, Sofia Saenz; Vetrini, Francesco; Belonis, Alyce; Zhang, Wenying

Exome sequencing identified a novel HIST1H1E heterozygous protein‐truncating variant in a 6‐month‐old male patient with Rahman syndrome: A case report

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Wiley, 2022

Published in: Clinical Case Reports, 10 (2022) 2
Jacobs, Annalise; Burns, Catherine; Patel, Purva; Treat, Kayla; Helm, Benjamin Michael; Conboy, Erin; Vetrini, Francesco

Reanalysis of a novel variant in the IGF1R gene in a family with variable pre-and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM-URDC (Undiagnosed Rare Disease Clinic) program

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Cold Spring Harbor Laboratory, 2022

Published in: Molecular Case Studies (2022), Seite mcs.a006170
Vetrini, Francesco; Auricchio, Alberto; Du, Jinyan; Angeletti, Barbara; Fisher, David E.; Ballabio, Andrea; Marigo, Valeria

The Microphthalmia Transcription Factor (Mitf) Controls Expression of the Ocular Albinism Type 1 Gene: Link between Melanin Synthesis and Melanosome Biogenesis

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Informa UK Limited, 2004

Published in: Molecular and Cellular Biology, 24 (2004) 15, Seite 6550-6559
Bruns, Rebecca; Liaqat, Khurram; Nasir, Abdul; Treat, Kayla; Murthy, Vinaya S.; Mantcheva, Lili; Torres, Wilfredo; Conboy, Erin; Vetrini, Francesco

Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Wiley, 2024

Published in: Congenital Anomalies, 64 (2024) 3, Seite 155-160
Cao, Ye; Manning, Melanie; Pope, Kathleen; He, Weimin; Vetrini, Francesco; Siskind, Carly; Rosenfeld, Jill A.; Yang, Yaping; Xiao, Rui

Genotype‐phenotype study and expansion of ARL6IP1‐related complicated hereditary spastic paraplegia

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Wiley, 2021

Published in: Clinical Genetics, 99 (2021) 3, Seite 477-480
Younger, Georgianne; Vetrini, Francesco; Weaver, David D.; Lynnes, Ty C.; Treat, Kayla; Pratt, Victoria M.; Torres‐Martinez, Wilfredo

EVEN‐PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Wiley, 2020

Published in: American Journal of Medical Genetics Part A, 182 (2020) 11, Seite 2501-2507
Piccolo, Pasquale; Vetrini, Francesco; Mithbaokar, Pratibha; Grove, Nathan C; Bertin, Terry; Palmer, Donna; Ng, Philip; Brunetti-Pierri, Nicola

SR-A and SREC-I Are Kupffer and Endothelial Cell Receptors for Helper-dependent Adenoviral Vectors

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Elsevier BV, 2013

Published in: Molecular Therapy, 21 (2013) 4, Seite 767-774
Vetrini, Francesco; Brunetti-Pierri, Nicola; Palmer, Donna J; Bertin, Terry; Grove, Nathan C; Finegold, Milton J; Ng, Philip

Vasoactive Intestinal Peptide Increases Hepatic Transduction and Reduces Innate Immune Response Following Administration of Helper-dependent Ad

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Elsevier BV, 2010

Published in: Molecular Therapy, 18 (2010) 7, Seite 1339-1345
Vetrini, Francesco; Tammaro, Roberta; Bondanza, Sergio; Surace, Enrico M.; Auricchio, Alberto; De Luca, Michele; Ballabio, Andrea; Marigo, Valeria

Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Hindawi Limited, 2006

Published in: Human Mutation, 27 (2006) 5, Seite 420-426
Muqsit Buchh; Patrick Gillespie; Kayla Treat; Marco Abreu; Tae-Hwi Schwantes-An; Benjamin Helm; Fang Fang; Xaoling Xuei; Lili Mantcheva; Kristen Suhrie; Brett Graham; Erin Conboy; Francesco Vetrini

P433: A novel deep intronic variant in DYNC2H1 characterized through exome reanalysis in a neonate with short-rib thoracic dysplasia type III

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

2023

Published in: Genetics in Medicine Open, 1 (2023) 1
Pratt, Victoria M.; Turner, Amy; Broeckel, Ulrich; Dawson, D. Brian; Gaedigk, Andrea; Lynnes, Ty C.; Medeiros, Elizabeth B.; Moyer, Ann M.; Requesens, Deborah; Vetrini, Francesco; Kalman, Lisa V.

Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Elsevier BV, 2021

Published in: The Journal of Molecular Diagnostics, 23 (2021) 8, Seite 952-958
Shibao, Cyndya; Phillips, John A.; Cogan, Joy D.; Newman, John H.; Hamid, Rizwan; Sheehan, Jonathan; Vetrini, Francesco; Yang, Yaping; Black, Bonnie; Robertson, David; Biaggioni, Italo

Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants: Novel Genetic Cause of Neurogenic Orthostatic Hypotension

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Elsevier BV, 2018

Published in: SSRN Electronic Journal (2018)
Pastore, Nunzia; Nusco, Edoardo; Piccolo, Pasquale; Castaldo, Sigismondo; Vaníkova, Jana; Vetrini, Francesco; Palmer, Donna J.; Vitek, Libor; Ng, Philip; Brunetti-Pierri, Nicola

Improved Efficacy and Reduced Toxicity by Ultrasound-Guided Intrahepatic Injections of Helper-Dependent Adenoviral Vector in Gunn Rats

View online
Schließen

Access

Close

Bookmarks

You can manage bookmarks using lists, please log in to your user account for this.

Mary Ann Liebert Inc, 2013

Published in: Human Gene Therapy Methods, 24 (2013) 5, Seite 321-327

You did not find what you were looking for?

Purchase suggestion
Are you missing something you need for your research? If you have any suggestions please share them here.

Interlibrary Loan
Please search and order your favorite title in the Interlibrary Loan Portal.

Search in field:

Recently searched for:

You did not find what you were looking for?

> Year of publication

Year of publication