Publications by authors named "Bianca E Russell"

4Publications

Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.

Authors:
Stephanie Efthymiou Marina Dutra-Clarke Reza Maroofian Rauan Kaiyrzhanov Marcello Scala Javeria Reza Alvi Tipu Sultan Marilena Christoforou Thi Tuyet Mai Nguyen Kshitij Mankad Barbara Vona Aboulfazl Rad Pasquale Striano Vincenzo Salpietro Maria J Guillen Sacoto Maha S Zaki Joseph G Gleeson Philippe M Campeau Bianca E Russell Henry Houlden

Epilepsia 2021 Jan 7. Epub 2021 Jan 7.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK.

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January 2021

Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose.

Authors:
Angela Delaney Rita Volochayev Brooke Meader Janice Lee Konstantinia Almpani Germaine Y Noukelak Jennifer Henkind Laura Chalmers Jennifer R Law Kathleen A Williamson Christina M Jacobsen Tatiana Pineda Buitrago Orlando Perez Chie-Hee Cho Angela Kaindl Anita Rauch Katharina Steindl Jose Elias Garcia Bianca E Russell Rameshwar Prasad Uttam K Mondal Hallvard M Reigstad Scott Clements Susan Kim Kaoru Inoue Gazal Arora Kathryn B Salnikov Nicole P DiOrio Rolando Prada Yline Capri Kosuke Morioka Michiyo Mizota Roseli M Zechi-Ceide Nancy M Kokitsu-Nakata Cristiano Tonello Siulan Vendramini-Pittoli Gisele da Silva Dalben Ravikumar Balasubramanian Andrew A Dwyer Stephanie B Seminara William F Crowley Lacey Plummer Janet E Hall John M Graham Angela E Lin Natalie D Shaw

J Clin Endocrinol Metab 2020 May;105(5)

Clinical Research Branch, National Institute of Environmental Health Sciences, Durham, North Carolina.

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May 2020

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.

Authors:
Bianca E Russell Diana Rigueur Kathryn N Weaver Kristen Sund Janet S Basil Robert B Hufnagel Cynthia A Prows Alan Oestreich Lihadh Al-Gazali Robert J Hopkin Howard M Saal Karen Lyons Andrew Dauber

Mol Genet Genomic Med 2019 11 7;7(11):e969. Epub 2019 Sep 7.

Division of Endocrinology, Cincinnati Children's Hospital and University of Cincinnati College of Medicine, Department of Pediatrics, Cincinnati, OH, USA.

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November 2019

Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.

Authors:
Bianca E Russell Kaitlin G Whaley Kevin E Bove Anatalia Labilloy Rachel C Lombardo Robert J Hopkin Nancy D Leslie Carlos Prada Zahra Assouline Giulia Barcia Juliette Bouchereau Maryline Chomton Dominique Debray Imen Dorboz Philippe Durand Pauline Gaignard Dalila Habes Claude Jardel François Labarthe Jonathan Lévy Anne Lombès Claire Mehler-Jacob Judith Melki Laura Menvielle Arnold Munnich Charlotte Mussini Samia Pichard Marlène Rio Agnès Rötig Samira Sissaoui Abdelhamid Slama Alexander G Miethke Manuel Schiff

Hepatology 2019 09 16;70(3):1066-1070. Epub 2019 May 16.

Reference Center for Inherited Metabolic Diseases, Robert Debré Hospital, University Paris Diderot-Sorbonne Paris Cité, APHP, Paris, France.

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September 2019