Publications by authors named "Sultana Faradz"

62Publications

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

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

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

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.

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.

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.

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.

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

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

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

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

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.

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

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

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.

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.

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