Publications by authors named "Sultana Faradz"

62Publications

Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism.

Authors:
Nydia Rena Benita Sihombing Tri Indah Winarni Hans van Bokhoven Ineke van der Burgt Nicole de Leeuw Sultana M H Faradz

Am J Med Genet A 2020 11 18;182(11):2731-2736. Epub 2020 Sep 18.

Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Semarang, Indonesia.

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November 2020

Repeat expansion and methylation-sensitive triplet-primed polymerase chain reaction for fragile X mental retardation 1 gene screening in institutionalised intellectually disabled individuals.

Authors:
Nydia Rena Benita Sihombing Shiwei Cai Daphne Pei Wen Wong Ming Guan Samuel Siong-Chuan Chong Sultana Muhammad Hussein Faradz Tri Indah Winarni

Singapore Med J 2020 Jan 28. Epub 2020 Jan 28.

Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Semarang, Indonesia.

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January 2020

Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development.

Authors:
Jocelyn A van den Bergen Gorjana Robevska Stefanie Eggers Stefan Riedl Sonia R Grover Philip B Bergman Chris Kimber Ashish Jiwane Sophy Khan Csilla Krausz Jamal Raza Irum Atta Susan R Davis Makato Ono Vincent Harley Sultana M H Faradz Andrew H Sinclair Katie L Ayers

Mol Genet Genomic Med 2020 03 21;8(3):e1095. Epub 2020 Jan 21.

Genetics, Murdoch Children's Research Institute, Parkville, Vic., Australia.

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March 2020

The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice.

Authors:
Stefan Bagheri-Fam Huijun Chen Sean Wilson Katie Ayers James Hughes Frederique Sloan-Bena Pierre Calvel Gorjana Robevska Beatriz Puisac Kamila Kusz-Zamelczyk Stefania Gimelli Anna Spik Jadwiga Jaruzelska Alina Warenik-Szymankiewicz Sultana Faradz Serge Nef Juan Pié Paul Thomas Andrew Sinclair Dagmar Wilhelm

PLoS One 2020 7;15(1):e0227411. Epub 2020 Jan 7.

Department of Anatomy & Neuroscience, The University of Melbourne, Melbourne, Australia.

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April 2020

Turner syndrome in diverse populations.

Authors:
Paul Kruszka Yonit A Addissie Cedrik Tekendo-Ngongang Kelly L Jones Sarah K Savage Neerja Gupta Nirmala D Sirisena Vajira H W Dissanayake C Sampath Paththinige Teresa Aravena Sheela Nampoothiri Dhanya Yesodharan Katta M Girisha Siddaramappa Jagdish Patil Saumya Shekhar Jamuar Jasmine Chew-Yin Goh Agustini Utari Nydia Sihombing Rupesh Mishra Neer Shoba Chitrakar Brenda C Iriele Ezana Lulseged Andre Megarbane Annette Uwineza Elizabeth Eberechi Oyenusi Oluwarotimi Bolaji Olopade Olufemi Adetola Fasanmade Milagros M Duenas-Roque Meow-Keong Thong Joanna Y L Tung Gary T K Mok Nicole Fleischer Godfrey M Rwegerera María Beatriz de Herreros Johnathan Watts Karen Fieggen Victoria Huckstadt Angélica Moresco María Gabriela Obregon Dalia Farouk Hussen Neveen A Ashaat Engy A Ashaat Brian H Y Chung Eben Badoe Sultana M H Faradz Mona O El Ruby Vorasuk Shotelersuk Ambroise Wonkam Ekanem Nsikak Ekure Shubha R Phadke Antonio Richieri-Costa Maximilian Muenke

Am J Med Genet A 2020 02 19;182(2):303-313. Epub 2019 Dec 19.

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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February 2020

Duplication of 1q31.3q41 in two affected siblings due to paternal insertional translocation.

Authors:
Nydia Rena Benita Sihombing Nicole de Leeuw Hans van Bokhoven Sultana Mh Faradz

BMJ Case Rep 2019 Aug 30;12(8). Epub 2019 Aug 30.

Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Semarang, Indonesia.

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August 2019

The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1.

Authors:
Ferdy K Cayami Alessandra Maugeri Sanne Treurniet Eva D Setijowati Bernd P Teunissen Elisabeth M W Eekhoff Gerard Pals Sultana M Faradz Dimitra Micha

Mol Genet Genomic Med 2019 08 17;7(8):e823. Epub 2019 Jun 17.

Department of Clinical Genetics, Amsterdam Movement Sciences, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

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August 2019

Glucocorticoid Activity of Adrenal Steroid Precursors in Untreated Patients With Congenital Adrenal Hyperplasia.

Authors:
Manon Engels Karijn J Pijnenburg-Kleizen Agustini Utari Sultana M H Faradz Sandra Oude-Alink Antonius E van Herwaarden Paul N Span Fred C Sweep Hedi L Claahsen-van der Grinten

J Clin Endocrinol Metab 2019 11;104(11):5065-5072

Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Amalia Children's Hospital, Department of Pediatrics, Nijmegen, Netherlands.

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November 2019

Identification of a Novel CHD7 Mutation in a Syndrome Patient in Indonesia.

Authors:
Gara Samara Brajadenta Agustini Utari Sylvie Patri Frédéric Bilan Sultana Muhammad Hussein Faradz Alain Kitzis Vincent Thoreau

Ann Lab Med 2019 Sep;39(5):503-506

EA3808 Neurovascular Unit and Cognitive Impairments, University of Poitiers, Poitiers, France.

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September 2019

Training in clinical genetics and genetic counseling in Asia.

Authors:
Eva Maria Cutiongco-de la Paz Brian Hon-Yin Chung Sultana M H Faradz Meow-Keong Thong Carmencita David-Padilla Poh San Lai Shuan-Pei Lin Yin-Hsiu Chen Thanyachai Sura Mercy Laurino

Am J Med Genet C Semin Med Genet 2019 06 29;181(2):177-186. Epub 2019 Apr 29.

Department of Pediatrics, College of Medicine, University of the Philippines Manila, Manila, Philippines.

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June 2019

Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development.

Authors:
Katie Ayers Jocelyn van den Bergen Gorjana Robevska Nurin Listyasari Jamal Raza Irum Atta Stefan Riedl Karen Rothacker Catherine Choong Sultana M H Faradz Andrew Sinclair

J Med Genet 2019 07 24;56(7):434-443. Epub 2019 Apr 24.

Cell Biology, Murdoch Children's Research Institute, Parkville, Victoria, Australia.

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July 2019

Genetic Analysis Reveals Complete Androgen Insensitivity Syndrome in Female Children Surgically Treated for Inguinal Hernia.

Authors:
Nurin A Listyasari Gorjana Robevska Ardy Santosa Aurore Bouty A Z Juniarto Jocelyn van den Bergen Katie L Ayers Andrew H Sinclair Sultana Mh Faradz

J Invest Surg 2019 Apr 23:1-7. Epub 2019 Apr 23.

e Division of Human Genetics , Centre for Biomedical Research Faculty of Medicine Diponegoro University (FMDU) , Semarang , Indonesia.

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April 2019

Functional Characterization of Two New Variants in the Bone Morphogenetic Protein 7 Prodomain in Two Pairs of Monozygotic Twins With Hypospadias.

Authors:
Aurore Bouty Kelly Walton Nurin Aisyiyah Listyasari Gorjana Robevska Jocelyn Van den Bergen Ardy Santosa Sultana M H Faradz Craig Harrison Katie L Ayers Andrew H Sinclair

J Endocr Soc 2019 Apr 22;3(4):814-824. Epub 2019 Feb 22.

Murdoch Children's Research Institute, Parkville, Australia.

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April 2019

Quality of Life in Late-Treated Patients With Disorders of Sex Development: Insights for Patient-Centered Care.

Authors:
Annastasia Ediati Gijsbert H W Verrips Achmad Zulfa Juniarto Sultana M H Faradz Stenvert L S Drop Arianne B Dessens

Front Pediatr 2018 30;6:434. Epub 2019 Jan 30.

Department of Child and Adolescent Psychiatry and Psychology, Erasmus Medical Center Rotterdam, Sophia Children's Hospital, Rotterdam, Netherlands.

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January 2019

A Single Common Assay for Robust and Rapid Fragile X Mental Retardation Syndrome Screening From Dried Blood Spots.

Authors:
Vivienne J Tan Mulias Lian Sultana M H Faradz Tri I Winarni Samuel S Chong

Front Genet 2018 27;9:582. Epub 2018 Nov 27.

Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.

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November 2018

Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches.

Authors:
Brendan Backhouse Chloe Hanna Gorjana Robevska Jocelyn van den Bergen Emanuele Pelosi Cas Simons Peter Koopman A Zulfa Juniarto Sonia Grover Sultana Faradz Andrew Sinclair Katie Ayers Tiong Y Tan

Sex Dev 2019 1;13(1):26-34. Epub 2018 Dec 1.

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August 2019

Social stigmatisation in late identified patients with disorders of sex development in Indonesia.

Authors:
Annastasia Ediati A Zulfa Juniarto Erwin Birnie Jolanda Okkerse Amy Wisniewski Stenvert Drop Sultana M H Faradz Arianne Dessens

BMJ Paediatr Open 2017 30;1(1):e000130. Epub 2017 Oct 30.

Department of Child and Adolescent Psychiatry and Psychology, Erasmus MC Sophia, Rotterdam, The Netherlands.

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October 2017

Current practice for genetic counselling by nurses: An integrative review.

Authors:
Jennieffer A Barr Lily P Tsai Anthony Welch Sultana M H Faradz Katrina Lane-Krebs Virginia Howie Wendy Hillman

Int J Nurs Pract 2018 Apr 20;24(2):e12629. Epub 2018 Feb 20.

School of Nursing, Midwifery, and Social Science, Central Queensland University, Rockhampton North, Australia.

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April 2018

Phenotypic Variation of 46,XX Late Identified Congenital Adrenal Hyperplasia among Indonesians.

Authors:
Achmad Zulfa Juniarto Maria Ulfah Mahayu Dewi Ariani Agustini Utari Sultana Mh Faradz

J ASEAN Fed Endocr Soc 2018 12;33(1):6-11. Epub 2018 Mar 12.

Center for Biomedical Research (CEBIOR), Faculty of Medicine Diponegoro University, Semarang, Indonesia.

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March 2018

Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.

Authors:
Gorjana Robevska Jocelyn A van den Bergen Thomas Ohnesorg Stefanie Eggers Chloe Hanna Remko Hersmus Elizabeth M Thompson Anne Baxendale Charles F Verge Antony R Lafferty Nanis S Marzuki Ardy Santosa Nurin A Listyasari Stefan Riedl Garry Warne Leendert Looijenga Sultana Faradz Katie L Ayers Andrew H Sinclair

Hum Mutat 2018 01 2;39(1):124-139. Epub 2017 Nov 2.

Murdoch Children's Research Institute, Melbourne, Australia.

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January 2018