Allison Goetsch

Allison Goetsch

UNVERIFIED PROFILE

Are you Allison Goetsch?   Register this Author

Register author
Allison Goetsch

Allison Goetsch

Publications by authors named "Allison Goetsch"

Are you Allison Goetsch?   Register this Author

4Publications

120Reads

50Profile Views

Turner Syndrome with Y Chromosome: Spontaneous Thelarche, Menarche, and Risk of Malignancy.

Authors:
Elizabeth Dabrowski Emilie K Johnson Vrunda Patel YeoChing Hsu Shanlee Davis Allison L Goetsch Reema Habiby Wendy J Brickman Courtney Finlayson

J Pediatr Adolesc Gynecol 2020 Feb 26;33(1):10-14. Epub 2019 Aug 26.

Division of Pediatric Endocrinology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/j.jpag.2019.08.011DOI Listing
February 2020

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2020 Jan 26;41(1):299-315. Epub 2019 Oct 26.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1002/humu.23929DOI Listing
January 2020

Reproductive Endocrinologists' Utilization of Genetic Counselors for Oncofertility and Preimplantation Genetic Diagnosis (PGD) Treatment of BRCA1/2 Mutation Carriers.

Authors:
Allison L Goetsch Catherine Wicklund Marla L Clayman Teresa K Woodruff

J Genet Couns 2016 06 14;25(3):561-71. Epub 2015 Nov 14.

Department of Obstetrics and Gynecology, Northwestern University Feinberg School of Medicine, 303 E. Superior St, Lurie 10-231, Chicago, IL, USA.

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1007/s10897-015-9908-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867141PMC
June 2016

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

Authors:
Ghayda M Mirzaa Valerio Conti Andrew E Timms Christopher D Smyser Sarah Ahmed Melissa Carter Sarah Barnett Robert B Hufnagel Amy Goldstein Yoko Narumi-Kishimoto Carissa Olds Sarah Collins Kathreen Johnston Jean-François Deleuze Patrick Nitschké Kathryn Friend Catharine Harris Allison Goetsch Beth Martin Evan August Boyle Elena Parrini Davide Mei Lorenzo Tattini Anne Slavotinek Ed Blair Christopher Barnett Jay Shendure Jamel Chelly William B Dobyns Renzo Guerrini

Lancet Neurol 2015 Dec 29;14(12):1182-95. Epub 2015 Oct 29.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy; IRCCS Stella Maris Foundation, Pisa, Italy. Electronic address:

View Article

Download full-text PDF

 Source
http://dx.doi.org/10.1016/S1474-4422(15)00278-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4672724PMC
December 2015