Identification of two novel mutations, PSEN1 E280K and PRNP G127S, in a Malaysian family

Autor: Ch’ng GS, An SSA, Bae SO, Bagyinszky E, Kim SY

Publikováno v: Neuropsychiatric Disease and Treatment, Vol 2015, Iss default, Pp 2315-2322 (2015)

Gaik-Siew Ch’ng,1,* Seong Soo A An,2,* Sun Oh Bae,2 Eva Bagyinszky,2 SangYun Kim3,41Department of Genetics, Kuala Lumpur Hospital, Malaysia; 2Department of Bionano Technology, Gachon University, 3Department of Neurology, Seoul National University C

Externí odkaz: https://doaj.org/article/87dc9a1cbf9e44f98c0358bc0cdc0cd9

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

Autor: Kaur M; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Blair J; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Devkota B; Illumina Inc, San Diego, California, USA., Fortunato S; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Clark D; Natera, Inc., Austin, Texas, USA., Lawrence A; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Kim J; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Do W; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Semeo B; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Katz O; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Mehta D; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Yamamoto N; Division of Otolaryngology, National Center for Child Health and Development, Tokyo, Japan., Schindler E; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Al Rawi Z; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Wallace N; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Wilde JJ; Emugen Therapeutics, Woburn, Massachusetts, USA., McCallum J; Department of Cancer Biology, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Liu J; Department of Pathology, Anatomy, and Cell Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA., Xu D; Hematologics Inc, Seattle, Washington, USA., Jackson M; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Rentas S; Department of Pathology, Duke University School of Medicine, Durham, North Carolina, USA., Tayoun AA; Al Jalila Genomics Center, Al Jalila Children's Hospital, Dubai, United Arab Emirates.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates., Zhe Z; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Abdul-Rahman O; Department of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA., Allen B; Fullerton Genetics Center, Mission Health, Asheville, North Carolina, USA., Angula MA; Department of Pediatrics, NYU Langone Hospital-Long Island, Mineola, New York, USA., Anyane-Yeboa K; Pediatrics, Columbia University Irving Medical Center, New York, New York, USA., Argente J; Hospital Infantil Universitario Niño Jesús & Universidad Autónoma de Madrid, Madrid, Spain.; CIBER Fisiopatología de la obesidad y nutrición (CIBEROBN) and IMDEA Food Institute, Madrid, Spain., Arn PH; Department of Pediatrics, Nemours Children's Specialty Care, Jacksonville, Florida, USA., Armstrong L; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Department of Medical Genetics, BC Women's Hospital, Vancouver, British Columbia, Canada., Basel-Salmon L; Rabin Medical Center-Beilinson Hospital, Raphael Recanati Genetics Institute, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Felsenstein Medical Research Center, Petach Tikva, Israel., Baynam G; Western Australian Register of Developmental Anomalies and Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia.; Faculty of Health and Medical Sciences, Division of Pediatrics and Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia.; Rare Care Centre, Perth Children's Hospital, Perth, Western Australia, Australia., Bird LM; Department of Pediatrics, University of California San Diego, San Diego, California, USA.; Division of Genetics & Dysmophology, Rady Children's Hospital San Diego, San Diego, California, USA., Bruegger D; Department of Otolaryngology-Head and Neck Surgery, University of Kansas School of Medicine, Kansas City, Kansas, USA., Ch'ng GS; Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia., Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for SickKids, University of Toronto, Toronto, Ontario, Canada., Clark R; Department of Pediatrics, Division of Medical Genetics, Loma Linda University School of Medicine, Loma Linda, California, USA., Cox GF; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Dave U; R & D MILS International India, Mumbai, India., DeBaere E; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Field M; Genetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia., Graham JM Jr; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA., Gripp KW; Nemours Children's Health, Wilmington, Delaware, USA., Greenstein R; University of Connecticut Health Center, Farmington, Connecticut, USA., Gupta N; Division of Genetics, Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India., Heidenreich R; Department of Pediatrics, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA., Hoffman J; Department of Pediatrics, Boston University School of Medicine, Boston, Massachusetts, USA., Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Jones KL; Division of Dysmorphology & Teratology, Department of Pediatrics, University of California San Diego School of Medicine, San Diego, California, USA., Jones MC; Department of Pediatrics, University of California San Diego, San Diego, California, USA.; Division of Genetics & Dysmophology, Rady Children's Hospital San Diego, San Diego, California, USA., Kariminejad A; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran., Kogan J; Division of Genetics, Advocate Children's Hospital, Park Ridge, Illinois, USA., Lace B; Children's Clinical University Hospital, Riga, Latvia., Leroy J; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Lynch SA; Department of Clinical Genetics, Children's Health Ireland, Dublin, Ireland., McDonald M; Duke University Medical Center, Durham, North Carolina, USA., Meagher K; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada., Mendelsohn N; Complex Health Solutions, United Healthcare, Minneapolis, Minnesota, USA., Micule I; Children's Clinical University Hospital, Riga, Latvia., Moeschler J; Department of Pediatrics, Geisel School of Medicine, Dartmouth College, Hanover, New Hampshire, USA., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, India., Ohashi K; Department of Medical Genetics, BC Women's Hospital, Vancouver, British Columbia, Canada., Powell CM; Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA., Ramanathan S; Department of Pediatrics, Division of Medical Genetics, Loma Linda University School of Medicine, Loma Linda, California, USA., Raskin S; Genetika-Centro de aconselhamento e laboratório de genética, Curitiba, Brazil., Roeder E; Department of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, Texas, USA., Rio M; Department of Genetics, Hôpital Necker-Enfants Malades, Paris, France., Rope AF; Genome Medical, South San Francisco, California, USA., Sangha K; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada., Scheuerle AE; Division of Genetics and Metabolism, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA., Schneider A; Department of Pediatrics and Oculogenetics, Wills Eye Hospital, Philadelphia, Pennsylvania, USA., Shalev S; Rappaport Faculty of Medicine, Technion, The Genetics Institute, Emek Medical Center, Afula, Haifa, Israel., Siu V; London Health Sciences Centre, London, Ontario, Canada.; Division of Medical Genetics, Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada., Smith R; Division of Genetics, Department of Pediatrics, Maine Medical Center, Portland, Maine, USA., Stevens C; Department of Pediatrics, University of Tennessee College of Medicine, T.C. Thompson Children's Hospital, Chattanooga, Tennessee, USA., Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia., Toimie J; Clinical Genetics Service, Laboratory Medicine Building, Southern General Hospital, Glasgow, UK., Toriello H; Department of Pediatrics and Human Development, Michigan State University, East Lansing, Michigan, USA., Turner A; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.; Division of Genetics, Arnold Palmer Hospital, Orlando, Florida, USA., Wheeler PG; Division of Genetics, Arnold Palmer Hospital, Orlando, Florida, USA., White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Australia., Young T; Department of Ophthalmology and Visual Sciences, University of Wisconsin-Madison, Madison, Wisconsin, USA.; Research to Prevent Blindness Inc, New York, New York, USA., Loomes KM; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Pipan M; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Behavioral Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Harrington AT; Center for Rehabilitation, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Zackai E; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Rajagopalan R; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Conlin L; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Deardorff MA; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.; Department of Pediatrics, Children's Hospital Los Angeles, Keck School of Medicine of the University of Southern California, Los Angeles, California, USA., McEldrew D; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Pie J; Laboratorio de Genética Clínica y Genómica Funcional, Facultad de Medicina, Universidad de Zaragoza, Zaragoza, Spain., Ramos F; Unidad de Genética Clínica, Servicio de Pediatría, Hospital Clínico Universitario 'Lozano Blesa', Zaragoza, Spain.; Departamento de Pediatría, Facultad de Medicina, Universidad de Zaragoza, Zaragoza, Spain., Musio A; Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, Pisa., Kline AD; Greater Baltimore Medical Centre, Harvey Institute of Human Genetics, Baltimore, Maryland, USA., Izumi K; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Raible SE; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Krantz ID; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Aug; Vol. 191 (8), pp. 2113-2131. Date of Electronic Publication: 2023 Jun 28.

A mixed method study on the impact of living with spinal muscular atrophy in Malaysia from patients' and caregivers' perspectives.

Autor: Ch'ng GS; Department of Genetics, Hospital Pulau Pinang, Ministry of Health, Jalan Residensi, 10990, George Town, Penang, Malaysia., Koh K; Clinical Research Centre, Hospital Kuala Lumpur, Ministry of Health, Jalan Pahang, 50586, Kuala Lumpur, Malaysia. ireth_ere@yahoo.com., Ahmad-Annuar A; Department of Biomedical Science, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia., Taib F; Department of Paediatrics, Hospital Universiti Sains Malaysia, 16150 Kubang Kerian, Kota Bharu, Kelantan, Malaysia., Koh CL; HELP University, Wisma HELP, Jalan Dungun, Bukit Damansara, 50490, Kuala Lumpur, Malaysia., Lim ESC; Persatuan Kebajikan Ceriajaya Kuala Lumpur Dan Selangor (WeCareJourney), Suite 105, MBE Uptown, No 54, GF, Jalan SS21/58, Damansara Uptown, 47400, Petaling Jaya, Selangor, Malaysia.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 May 16; Vol. 17 (1), pp. 200. Date of Electronic Publication: 2022 May 16.

Oncologist-led BRCA counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes.

Autor: Yoon SY; Genetic Counselling, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia sookyee.yoon@cancerresearch.my., Wong SW; Genetic Counselling, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia., Lim J; Genetic Counselling, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia., Ahmad S; Genetic Counselling, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia., Mariapun S; Genetic Counselling, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia., Padmanabhan H; Genetic Counselling, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia., Hassan NT; Genetic Counselling, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia., Lau SY; Genetic Counselling, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia., Ch'ng GS; Genetics, Penang Hospital, Penang, Penang, Malaysia.; Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Wilayah Persekutuan, Malaysia., Haniffa M; Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Wilayah Persekutuan, Malaysia., Ong WP; Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Wilayah Persekutuan, Malaysia., Rethanavelu K; Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Wilayah Persekutuan, Malaysia., Moey LH; Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Wilayah Persekutuan, Malaysia., Keng WT; Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Wilayah Persekutuan, Malaysia., Omar J; Gynaeoncology, Institut Kanser Negara, Putrajaya, Wilayah Persekutuan Putra, Malaysia., Mohd Abas MN; Gynaeoncology, Institut Kanser Negara, Putrajaya, Wilayah Persekutuan Putra, Malaysia., Yong CM; Gynaeoncology, Hospital Ampang, Ampang, Malaysia., Ramasamy V; Gynaeoncology, Hospital Ampang, Ampang, Malaysia., Md Noor MR; Gynaeoncology, Hospital Sultanah Bahiyah, Alor Setar, Kedah Darul Aman, Malaysia., Aliyas I; Gynaeoncology, Hospital Sultanah Bahiyah, Alor Setar, Kedah Darul Aman, Malaysia., Lim MCK; Department of O&G, University of Malaya, Kuala Lumpur, Wilayah Persekutuan, Malaysia., Suberamaniam A; Gynaeoncology, University of Malaya Medical Centre, Kuala Lumpur, Wilayah Persekutuan, Malaysia., Mat Adenan NA; Department of O&G, University of Malaya, Kuala Lumpur, Wilayah Persekutuan, Malaysia., Ahmad ZA; Department of O&G, University of Malaya, Kuala Lumpur, Wilayah Persekutuan, Malaysia., Ho GF; Clinical Oncology, University of Malaya, Kuala Lumpur, Wilayah Persekutuan, Malaysia., Abdul Malik R; Clinical Oncology, University of Malaya, Kuala Lumpur, Wilayah Persekutuan, Malaysia., Subramaniam S; Gynaeoncology, Hospital Wanita Dan Kanak-Kanak Sabah, Kota Kinabalu, Malaysia., Khoo BP; Gynaeoncology, Hospital Wanita Dan Kanak-Kanak Sabah, Kota Kinabalu, Malaysia., Raja A; Gynaeoncology, Hospital Wanita Dan Kanak-Kanak Sabah, Kota Kinabalu, Malaysia., Chin YS; Gynaeoncology, Hospital Wanita Dan Kanak-Kanak Sabah, Kota Kinabalu, Malaysia., Sim WW; Gynaeoncology, Hospital Umum Sarawak, Kuching, Sarawak, Malaysia., Teh BH; Gynaeoncology, Hospital Umum Sarawak, Kuching, Sarawak, Malaysia., Kho SK; Oncology, Hospital Umum Sarawak, Kuching, Sarawak, Malaysia., Ong ESE; Oncology, Hospital Umum Sarawak, Kuching, Sarawak, Malaysia., Voon PJ; Oncology, Hospital Umum Sarawak, Kuching, Sarawak, Malaysia., Ismail G; Gynaeoncology, Hospital Sultan Ismail, Johor Bharu, Johor Darul Ta'zim, Malaysia., Lee CL; Gynaeoncology, Hospital Sultan Ismail, Johor Bharu, Johor Darul Ta'zim, Malaysia., Abdullah BZ; Gynaeoncology, Hospital Sultan Ismail, Johor Bharu, Johor Darul Ta'zim, Malaysia., Loo KS; Gynaeoncology, Hospital Sultan Ismail, Johor Bharu, Johor Darul Ta'zim, Malaysia., Lim CS; Gynaeoncology, Hospital Sultan Ismail, Johor Bharu, Johor Darul Ta'zim, Malaysia., Lee SJ; Gynaeoncology, Hospital Raja Permaisuri Bainun, Ipoh, Perak, Malaysia., Lim KJL; Gynaeoncology, KPJ Johor Specialist Hospital, Johor, Malaysia., Shafiee MN; Gynaeoncology, Hospital Universiti Kebangsaan Malaysia, Cheras, Kuala Lumpur, Malaysia., Ismail F; Oncology, Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur, Wilayah Persekutuan, Malaysia., Latiff ZA; Clinical Genetics, Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur, Wilayah Persekutuan, Malaysia., Ismail MP; Gynaeoncology, Hospital Universiti Sains Malaysia, Kota Bahru, Kelantan, Malaysia., Mohamed Jamli MF; Gynaeoncology, Hospital Tuanku Ja'afar Seremban, Seremban, Negeri Sembilan, Malaysia., Kumarasamy S; Gynaeoncology, Gleneagles Penang, Penang, Malaysia., Leong KW; Oncology, Gleneagles Penang, Penang, Penang, Malaysia., Low J; Oncology, Pantai Hospital Kuala Lumpur, Kuala Lumpur, Wilayah Persekutuan, Malaysia., Md Yusof M; Oncology, Pantai Hospital Kuala Lumpur, Kuala Lumpur, Wilayah Persekutuan, Malaysia., Ahmad Mustafa AM; Gynaeoncology, Hospital Tengku Ampuan Afzan, Kuantan, Pahang, Malaysia., Mat Ali NH; Gynaeoncology, Hospital Tengku Ampuan Afzan, Kuantan, Pahang, Malaysia., Makanjang M; Gynaeoncology, KPJ Sabah Specialist Hospital, Kota Kinabalu, Sabah, Malaysia., Tayib S; Gynaeoncology, Penang General Hospital, Georgetown, Pulau Pinang, Malaysia., Cheah N; Oncology, Loh Guan Lye Specialist Centre, Penang, Malaysia., Lim BK; Department of O&G, University of Malaya, Kuala Lumpur, Wilayah Persekutuan, Malaysia., Fong CK; Gynaeoncology, Subang Jaya Medical Centre, Subang Jaya, Malaysia., Foo YC; Oncology, Subang Jaya Medical Centre, Subang Jaya, Selangor, Malaysia., Mellor Abdullah M; Oncology, Subang Jaya Medical Centre, Subang Jaya, Selangor, Malaysia., Tan TS; Gynaeoncology, Subang Jaya Medical Centre, Subang Jaya, Malaysia., Chow DSY; Oncology, Mount Miriam Cancer Hospital, Tanjong Bungah, Penang, Malaysia., Ho KF; Oncology, Mount Miriam Cancer Hospital, Tanjong Bungah, Penang, Malaysia., Raman R; Oncology, Mount Miriam Cancer Hospital, Tanjong Bungah, Penang, Malaysia., Radzi A; Oncology, Pantai Hospital Kuala Lumpur, Kuala Lumpur, Wilayah Persekutuan, Malaysia., Deniel A; Oncology, KPJ Ampang Puteri Specialist Hospital, Ampang, Kuala Lumpur, Malaysia., Teoh DCY; Oncology, KPJ Sabah Specialist Hospital, Kota Kinabalu, Sabah, Malaysia., Ang SF; Oncology, Penang Adventist Hospital, Penang, Penang, Malaysia., Joseph JK; Oncology, Sunway Medical Centre, Bandar Sunway, Selangor, Malaysia., Ng PHO; Oncology, Pantai Hospital Kuala Lumpur, Kuala Lumpur, Wilayah Persekutuan, Malaysia., Tho LM; Oncology, Beacon Hospital Sdn Bhd, Petaling Jaya, Malaysia., Ahmad AR; Oncology, Beacon Hospital Sdn Bhd, Petaling Jaya, Malaysia., Muin I; Oncology, Hospital Kuala Lumpur, Kuala Lumpur, Wilayah Persekutuan, Malaysia., Bleiker E; Department of Psychosocial Research and Epidemiology, Netherlands Cancer Institute, Amsterdam, Noord-Holland, The Netherlands., George A; Oncology, Royal Marsden Hospital Chelsea, London, London, UK., Thong MK; Genetic Medicine Unit, University of Malaya Medical Centre, Kuala Lumpur, Wilayah Persekutuan, Malaysia., Woo YL; Department of O&G, University of Malaya, Kuala Lumpur, Wilayah Persekutuan, Malaysia., Teo SH; Cancer Prevention and Population Science, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia.; University Malaya Cancer Research Institute, Universiti Malaya, Kuala Lumpur, Wilayah Persekutuan, Malaysia.

Publikováno v: Journal of medical genetics [J Med Genet] 2022 Mar; Vol. 59 (3), pp. 220-229. Date of Electronic Publication: 2021 Feb 01.

A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.

Autor: Bagyinszky E; Department of Industrial and Environmental Engineering, Graduate School of Environment, Gachon University, Seongnam 13120, Korea., Ch'ng GS; Department of Genetics, Penang Hospital, Penang 10990, Malaysia., Chan MY; Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur 50586, Malaysia., An SSA; Department of Bionano Technology, Gachon University, Seongnam 13120, Korea., Kim S; Department of Neurology, Seoul National University College of Medicine & Neurocognitive Behavior Center, Seoul National University Bundang Hospital, Seongnam 13620, Korea.

Publikováno v: Brain sciences [Brain Sci] 2021 Oct 08; Vol. 11 (10). Date of Electronic Publication: 2021 Oct 08.