Toshiyuki Yamamoto

Toshiyuki Yamamoto

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Toshiyuki Yamamoto

Publications by authors named "Toshiyuki Yamamoto"

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Establishment of a simple and rapid method to detect MECP2 duplications using digital polymerase chain reaction.

Congenit Anom (Kyoto) 2020 Jan 20;60(1):10-14. Epub 2019 Feb 20.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1111/cga.12325DOI Listing
January 2020

Nodular solar elastoma on the face.

J Dermatol 2020 Jan 20;47(1):e2-e4. Epub 2019 Oct 20.

Department of Dermatology, Fukushima Medical University, Fukushima, Japan.

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http://dx.doi.org/10.1111/1346-8138.15116DOI Listing
January 2020

Improving Coverage Rate for Urban Link Travel Time Prediction Using Probe Data in the Low Penetration Rate Environment.

Sensors (Basel) 2020 Jan 2;20(1). Epub 2020 Jan 2.

Institute of Materials and Systems for Sustainability, Nagoya University, Nagoya, Aichi 464-8603, Japan.

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http://dx.doi.org/10.3390/s20010265DOI Listing
January 2020

Malignant melanoma occurring on the chronic ulcer following surgical operation due to a traffic accident.

J Dermatol 2019 Dec 9;46(12):e459-e460. Epub 2019 Sep 9.

Department of Dermatology, Fukushima Medical University, Fukushima, Japan.

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http://dx.doi.org/10.1111/1346-8138.15075DOI Listing
December 2019

Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation.

Am J Med Genet A 2019 Dec 10. Epub 2019 Dec 10.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.61432DOI Listing
December 2019

De novo 1p35.2 microdeletion including PUM1 identified in a patient with sporadic West syndrome.

Congenit Anom (Kyoto) 2019 Nov 2;59(6):193-194. Epub 2019 Jan 2.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1111/cga.12322DOI Listing
November 2019

Bullous pemphigoid developed on nummular eczema lesions.

J Dermatol 2019 Nov 8;46(11):e426-e427. Epub 2019 Jul 8.

Department of Dermatology, Fukushima Medical University, Fukushima, Japan.

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http://dx.doi.org/10.1111/1346-8138.14990DOI Listing
November 2019

Transepidermal elimination in cutaneous sarcoid plaques on the face: A possible role of M2 type macrophage.

Australas J Dermatol 2019 Nov 14. Epub 2019 Nov 14.

Department of Dermatology, Fukushima Medical University, Fukushima, Japan.

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http://dx.doi.org/10.1111/ajd.13195DOI Listing
November 2019

IgA Vasculitis After Initiation of Ivermectin for Scabies: Coincident or Drug-Induced?

Am J Dermatopathol 2019 Nov 19. Epub 2019 Nov 19.

Meguro Chen Dermatology Clinic, Tokyo, Japan.

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http://dx.doi.org/10.1097/DAD.0000000000001573DOI Listing
November 2019

Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion.

Hum Genome Var 2019 18;6:47. Epub 2019 Oct 18.

6Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.

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http://dx.doi.org/10.1038/s41439-019-0079-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804575PMC
October 2019

Periorbital xanthoma-like amyloidosis in a patient with multiple myeloma-associated systemic amyloidosis.

Eur J Dermatol 2019 Oct;29(5):566-567

Department of Dermatology, Fukushima Medical University, Fukushima 960-1295, Japan.

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http://dx.doi.org/10.1684/ejd.2017.3116DOI Listing
October 2019

Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities.

Congenit Anom (Kyoto) 2019 Sep 15;59(5):169-173. Epub 2018 Nov 15.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1111/cga.12318DOI Listing
September 2019

Radiation-induced Köbner phenomenon in the induction of skin lesions of dermatomyositis.

Int J Dermatol 2019 Aug 19;58(8):e155-e156. Epub 2019 Apr 19.

Department of Dermatology, Fukushima Medical University, Fukushima, Japan.

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http://dx.doi.org/10.1111/ijd.14466DOI Listing
August 2019

Advantages of ddPCR in detection of duplications.

Intractable Rare Dis Res 2019 Aug;8(3):198-202

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.5582/irdr.2019.01067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6743437PMC
August 2019

Chronic sarcoid myopathy mimicking sporadic inclusion body myositis.

Clin Neurol Neurosurg 2019 Jul 6;182:84-86. Epub 2019 May 6.

Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan.

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http://dx.doi.org/10.1016/j.clineuro.2019.05.001DOI Listing
July 2019

Long-term natural history of an adult patient with distal 22q11.2 deletion from low copy repeat-D to E.

Congenit Anom (Kyoto) 2019 May 17;59(3):102-103. Epub 2018 Jul 17.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1111/cga.12301DOI Listing
May 2019

Phenotypic features of 1q41q42 microdeletion including WDR26 and FBXO28 are clinically recognizable: The first case from Japan.

Brain Dev 2019 May 8;41(5):452-455. Epub 2019 Jan 8.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan; Tokyo Women's Medical University Institute of Integrated Medical Sciences, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2018.12.006DOI Listing
May 2019

Diagnostic histopathological features distinguishing palmoplantar pustulosis from pompholyx.

J Dermatol 2019 May 28;46(5):399-408. Epub 2019 Mar 28.

Department of Dermatology, Ehime University Graduate School of Medicine, Toon, Japan.

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http://dx.doi.org/10.1111/1346-8138.14850DOI Listing
May 2019

Granulomatous Phlebitis in Necrobiosis Lipoidica.

Am J Dermatopathol 2019 May 17. Epub 2019 May 17.

Meguro Chen Dermatology Clinic, Tokyo, Japan.

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http://dx.doi.org/10.1097/DAD.0000000000001458DOI Listing
May 2019

Epidermal mast cells in Bowenoid papulosis during topical imiquimod therapy.

J Dermatol 2019 Apr 11;46(4):e137-e138. Epub 2018 Sep 11.

Department of Dermatology, Fukushima Medical University, Fukushima, Japan.

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http://dx.doi.org/10.1111/1346-8138.14642DOI Listing
April 2019

Bone scintigraphy analysis of 44 cases of pustulotic arthro-osteitis associated with palmoplantar pustulosis.

J Dermatol 2019 Apr 19;46(4):e122-e123. Epub 2018 Sep 19.

Department of Dermatology, Fukushima Medical University, Fukushima, Japan.

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http://dx.doi.org/10.1111/1346-8138.14655DOI Listing
April 2019

Epidemiology of pyoderma gangrenosum in Japanese patients by questionnaire survey.

J Dermatol 2019 Apr 19;46(4):e145-e146. Epub 2018 Sep 19.

Department of Dermatology, Fukushima Medical University, Fukushima, Japan.

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http://dx.doi.org/10.1111/1346-8138.14658DOI Listing
April 2019

Two cases of lupus arteritis: a rare type of cutaneous lupus vasculitis.

Int J Dermatol 2019 Apr 11;58(4):E85-E87. Epub 2018 Dec 11.

Department of Dermatology, Fukushima Medical University, Fukushima, Japan.

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http://dx.doi.org/10.1111/ijd.14327DOI Listing
April 2019

Imiquimod-induced widespread psoriasiform eruptions.

Eur J Dermatol 2019 04;29(2):225-227

Department of Dermatology, Fukushima Medical University, Fukushima, Japan.

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http://dx.doi.org/10.1684/ejd.2019.3517DOI Listing
April 2019

Switching biologics in the treatment of psoriatic arthritis in Japan.

J Dermatol 2019 Mar 29;46(3):e113-e114. Epub 2018 Aug 29.

Department of Dermatology, Kinki University Faculty of Medicine, Osakasayama, Japan.

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http://dx.doi.org/10.1111/1346-8138.14622DOI Listing
March 2019

Three Japanese patients with 3p13 microdeletions involving FOXP1.

Brain Dev 2019 Mar 10;41(3):257-262. Epub 2018 Nov 10.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan; Tokyo Women's Medical University Institute of Integrated Medical Sciences, Tokyo, Japan. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03877604183042
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http://dx.doi.org/10.1016/j.braindev.2018.10.016DOI Listing
March 2019

Clinical Characteristics of Japanese Patients with Palmoplantar Pustulosis.

Clin Drug Investig 2019 Mar;39(3):241-252

Department of Dermatology, Fukushima Medical University, Hikarigaoka 1, Fukushima, 960-1295, Japan.

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http://link.springer.com/10.1007/s40261-018-00745-6
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http://dx.doi.org/10.1007/s40261-018-00745-6DOI Listing
March 2019

Late-onset psoriatic arthritis in Japanese patients.

J Dermatol 2019 Feb 4;46(2):169-170. Epub 2019 Jan 4.

Department of Dermatology, Kinki University Faculty of Medicine, Osaka-Sayama, Japan.

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http://dx.doi.org/10.1111/1346-8138.14752DOI Listing
February 2019

Exacerbation of Psoriasis with Pustulation by Sorafenib in a Patient with Metastatic Hepatocellular Carcinoma.

Indian J Dermatol 2019 Jan-Feb;64(1):75-77

Department of Dermatology, Fukushima Medical University, Fukushima, Japan. E-mail:

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http://dx.doi.org/10.4103/ijd.IJD_16_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340229PMC
February 2019

Case of late-onset focal dermal elastosis.

J Dermatol 2018 Dec 31;45(12):e339-e340. Epub 2018 May 31.

Department of Dermatology, Fukushima Medical University, Fukushima, Japan.

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http://dx.doi.org/10.1111/1346-8138.14472DOI Listing
December 2018

Identification of Homozygous Somatic DICER1 Mutation in Pleuropulmonary Blastoma.

J Pediatr Hematol Oncol 2018 Dec 21. Epub 2018 Dec 21.

Department of Pediatrics, Gifu University Graduate School of Medicine.

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http://dx.doi.org/10.1097/MPH.0000000000001392DOI Listing
December 2018

Secondary calcification associated with subcutaneous sarcoidosis.

J Dermatol 2018 Oct 18;45(10):e282-e283. Epub 2018 Apr 18.

Department of Dermatology, Fukushima Medical University, Fukushima, Japan.

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http://dx.doi.org/10.1111/1346-8138.14320DOI Listing
October 2018

Recurrent pyoderma gangrenosum developed after a cesarean section with a 10-year interval.

Int J Dermatol 2018 10 19;57(10):e92-e93. Epub 2018 Jun 19.

Department of Dermatology, Fukushima Medical University School of Medicine, Fukushima, Japan.

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http://dx.doi.org/10.1111/ijd.14094DOI Listing
October 2018

Early-Onset Diabetes Mellitus in a Patient With a Chromosome 13q34qter Microdeletion Including .

J Endocr Soc 2018 Oct 11;2(10):1207-1213. Epub 2018 Sep 11.

Department of Endocrinology, Metabolism and Diabetes, Kindai University Faculty of Medicine, Osaka-sayama, Osaka, Japan.

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http://dx.doi.org/10.1210/js.2018-00175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169464PMC
October 2018

Varicella in a patient with drug-induced hypersensitivity syndrome developed after autologous peripheral stem cell transplantation.

Int J Dermatol 2018 09 15;57(9):e71-e73. Epub 2018 Jun 15.

Department of Dermatology, Fukushima Medical University, Fukushima, Japan.

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http://dx.doi.org/10.1111/ijd.14091DOI Listing
September 2018

Diagnostic criteria, severity classification and guidelines of eosinophilic fasciitis.

J Dermatol 2018 Aug 13;45(8):881-890. Epub 2017 Dec 13.

Department of Dermatology and Plastic Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.

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http://dx.doi.org/10.1111/1346-8138.14160DOI Listing
August 2018

Diagnostic criteria, severity classification and guidelines of lichen sclerosus et atrophicus.

J Dermatol 2018 Aug 19;45(8):891-897. Epub 2017 Dec 19.

Department of Molecular Pathology of Skin, Faculty of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Japan.

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http://dx.doi.org/10.1111/1346-8138.14171DOI Listing
August 2018

Secondary Ossification Associated with Seborrheic Keratosis Adjacent to Basal Cell Carcinoma.

Indian J Dermatol 2018 Jul-Aug;63(4):357-359

Department of Dermatology, Fukushima Medical University, Fukushima, Japan. E-mail:

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http://dx.doi.org/10.4103/ijd.IJD_54_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6052741PMC
August 2018

Novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley syndrome.

Congenit Anom (Kyoto) 2018 Jul 12;58(4):143-144. Epub 2017 Oct 12.

Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan.

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http://dx.doi.org/10.1111/cga.12251DOI Listing
July 2018

Diagnostic criteria, severity classification and guidelines of localized scleroderma.

J Dermatol 2018 Jul 23;45(7):755-780. Epub 2018 Apr 23.

Department of Dermatology and Plastic Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.

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http://dx.doi.org/10.1111/1346-8138.14161DOI Listing
July 2018

Comorbidities of Japanese patients with palmoplantar pustulosis: a report from a single center.

Int J Dermatol 2018 07 29;57(7):e40-e41. Epub 2018 Apr 29.

Department of Dermatology, Fukushima Medical University, Fukushima, Japan.

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http://dx.doi.org/10.1111/ijd.14023DOI Listing
July 2018

Interstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia.

Neuropsychiatr Dis Treat 2018 5;14:1773-1778. Epub 2018 Jul 5.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.2147/NDT.S168469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6038873PMC
July 2018

Intradermal Injections of Bleomycin to Model Skin Fibrosis.

Methods Mol Biol 2017 ;1627:43-47

Department of Dermatology, Fukushima Medical University, Fukushima, Japan.

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http://link.springer.com/10.1007/978-1-4939-7113-8_3
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http://dx.doi.org/10.1007/978-1-4939-7113-8_3DOI Listing
May 2018

Impact of a new simplified disability scoring system for adult patients with localized scleroderma.

J Dermatol 2018 Apr 25;45(4):431-435. Epub 2018 Jan 25.

Department of Dermatology and Plastic Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.

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http://dx.doi.org/10.1111/1346-8138.14214DOI Listing
April 2018

Clinical analysis of pyoderma gangrenosum: 41 Japanese cases over 15 years.

Eur J Dermatol 2018 04;28(2):230-232

Department of Dermatology, Fukushima Medical University, Fukushima, Japan.

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http://dx.doi.org/10.1684/ejd.2017.3204DOI Listing
April 2018

Clinical characteristics of Japanese patients with psoriatic arthritis: Comparison with East Asian countries.

J Dermatol 2018 Mar 10;45(3):273-278. Epub 2017 Dec 10.

Department of Dermatology, Faculty of Medicine, Kinki University, Osaka, Japan.

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http://dx.doi.org/10.1111/1346-8138.14097DOI Listing
March 2018

Somatic mosaic deletions involving SCN1A cause Dravet syndrome.

Am J Med Genet A 2018 03 17;176(3):657-662. Epub 2018 Jan 17.

Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan.

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http://dx.doi.org/10.1002/ajmg.a.38596DOI Listing
March 2018

Anti-Programmed Cell Death-1-Induced Plaque and Guttate Psoriasis.

Indian J Dermatol 2018 Jan-Feb;63(1):88-89

Department of Dermatology, Fukushima Medical University, Fukushima 960-1295, Japan. E-mail:

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http://dx.doi.org/10.4103/ijd.IJD_46_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838768PMC
March 2018

Infantile spasms related to a 5q31.2-q31.3 microdeletion including .

Hum Genome Var 2018 29;5:18007. Epub 2018 Mar 29.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1038/hgv.2018.7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5874397PMC
March 2018

Dysphagia Causes Symptom Fluctuations after Oral L-DOPA Treatment in a Patient with Parkinson Disease.

Case Rep Neurol 2018 Jan-Apr;10(1):101-107. Epub 2018 Mar 28.

Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1159/000488138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903165PMC
March 2018

Dramatic effect of hydroxychloroquine on lupus alopecia.

J Dermatol 2018 Feb 25;45(2):194-197. Epub 2017 Oct 25.

Department of Dermatology, Fukushima Medical University, Fukushima, Japan.

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http://dx.doi.org/10.1111/1346-8138.14069DOI Listing
February 2018

The effect of fatigue driving on injury severity considering the endogeneity.

J Safety Res 2018 02 27;64:11-19. Epub 2017 Dec 27.

Institute of Guangdong, Hong Kong and Macao Development Studies, Sun Yat-Sen University, Xingang Xi Road, Guangzhou, China; Center for Studies of Hong Kong, Macao and Pearl River Delta, Sun Yat-Sen University, Xingang Xi Road, Guangzhou, China.

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http://dx.doi.org/10.1016/j.jsr.2017.12.007DOI Listing
February 2018

Understanding factors associated with misclassification of fatigue-related accidents in police record.

J Safety Res 2018 02 11;64:155-162. Epub 2017 Dec 11.

Institute of Guangdong, Hong Kong and Macao Development Studies, Sun Yat-Sen University, Xingang Xi Road, Guangzhou, China; Center for Studies of Hong Kong, Macao and Pearl River Delta, Sun Yat-Sen University, Xingang Xi Road, Guangzhou, China. Electronic address:

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http://dx.doi.org/10.1016/j.jsr.2017.12.002DOI Listing
February 2018

A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects.

Congenit Anom (Kyoto) 2018 Jan 17;58(1):36-38. Epub 2017 May 17.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1111/cga.12221DOI Listing
January 2018

Wong-type dermatomyositis: A first report from Japan.

J Dermatol 2017 Dec 24;44(12):e336-e337. Epub 2017 Aug 24.

Department of Dermatology, Fukushima Medical University, Fukushima, Japan.

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http://dx.doi.org/10.1111/1346-8138.14006DOI Listing
December 2017

Triple cancers concurrently detected in a case of antitranscriptional intermediary factor-1γ antibody-positive dermatomyositis.

Int J Dermatol 2017 12 7;56(12):1516-1517. Epub 2017 Sep 7.

Department of Dermatology, Fukushima Medical University, Fukushima, Japan.

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http://dx.doi.org/10.1111/ijd.13729DOI Listing
December 2017

Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly.

Eur J Med Genet 2017 Dec 9;60(12):650-654. Epub 2017 Sep 9.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.08.017DOI Listing
December 2017

Dactylitis in sarcoidosis.

J Dermatol 2017 Dec 18;44(12):e340-e341. Epub 2017 Sep 18.

Department of Dermatology, Fukushima Medical University, Fukushima, Japan.

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http://dx.doi.org/10.1111/1346-8138.14015DOI Listing
December 2017

Basal cell carcinoma on the bilateral axillae: a report of axillary onset basal cell carcinoma from a single institute in Japan.

Int J Dermatol 2017 12 27;56(12):1492-1494. Epub 2017 Sep 27.

Department of Dermatology, Fukushima Medical University, Fukushima, Japan.

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http://dx.doi.org/10.1111/ijd.13645DOI Listing
December 2017

Mutations in and in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome.

J Pediatr Genet 2017 Dec 16;6(4):234-237. Epub 2017 May 16.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1055/s-0037-1603194DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5683957PMC
December 2017

Case of recalcitrant nail psoriasis unresponsive to adalimumab but successfully treated with infliximab.

J Dermatol 2017 Nov 21;44(11):e288-e289. Epub 2017 Jun 21.

Department of Dermatology, Fukushima Medical University School of Medicine, Fukushima, Japan.

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http://dx.doi.org/10.1111/1346-8138.13947DOI Listing
November 2017

Post-scabetic nodules.

J Dermatol 2017 Sep 23;44(9):e210-e211. Epub 2017 May 23.

Department of Dermatology, Fukushima Medical University, Fukushima, Japan.

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http://dx.doi.org/10.1111/1346-8138.13903DOI Listing
September 2017

Characteristics of rare and private deletions identified in phenotypically normal individuals.

Hum Genome Var 2017 14;4:17037. Epub 2017 Sep 14.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1038/hgv.2017.37DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5597573PMC
September 2017

Disturbed chromosome segregation and multipolar spindle formation in a patient with mutation.

Mol Genet Genomic Med 2017 Sep 12;5(5):585-591. Epub 2017 Jul 12.

Department of Human GeneticsYokohama City University Graduate School of MedicineYokohamaJapan.

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http://dx.doi.org/10.1002/mgg3.303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5606869PMC
September 2017

A novel mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.

Hum Genome Var 2017 3;4:17035. Epub 2017 Aug 3.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1038/hgv.2017.35DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540734PMC
August 2017

Eruptive xanthoma with isomorphic response of Koebner in a construction worker with severe hyperlipidemia.

J Dermatol 2017 Jul 8;44(7):e162-e163. Epub 2017 Jun 8.

Department of Dermatology, Fukushima Medical University, Fukushima, Japan.

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http://dx.doi.org/10.1111/1346-8138.13871DOI Listing
July 2017

A 15q14 microdeletion involving identified in a patient with autism spectrum disorder.

Hum Genome Var 2017 20;4:17029. Epub 2017 Jul 20.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1038/hgv.2017.29DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5517666PMC
July 2017

Prevalence and current therapies of psoriatic arthritis in Japan: A survey by the Japanese Society of Psoriasis Research in 2016.

J Dermatol 2017 Jun 3;44(6):e121. Epub 2017 Mar 3.

Department of Dermatology, Faculty of Medicine, Kinki University, Osaka-Sayama, Japan.

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http://dx.doi.org/10.1111/1346-8138.13800DOI Listing
June 2017

disease: Phenotype clarification and genotype-phenotype correlation.

Neurol Genet 2017 Jun 26;3(3):e148. Epub 2017 May 26.

Department of Paediatrics (Neurology) (M.A., B.A.M.), Program in Genetics and Genome Biology (S.W.S., C.R.M., S.W., B.A.M.), The Hospital for Sick Children and University of Toronto, Canada; Research Group Development and Disease (V.M.K., V.S.), Max Plank Institute for Molecular Genetics, Berlin, Germany; Department of Neurology (E.M., E.S.), University of California, San Francisco; Service de Cytogenetique Constitutionnelle (G.L., M.T.), Hospice Civils de Lyon, France; Center for Medical Genetics and Molecular Medicine (G.G.), Haukeland University Hospital, Bergen, Norway; Humangenetisches Institut (A.W.), Universitaetsklinikum Erlangen, Germany; Zentrum für Kinder- und Jugendmedizin (C.K.), Elisabeth Kinderkrankenhaus, Oldenburg, Germany; Service de Genetique Medicale (S.M.), CHU Hotel Dieu, Nantes, France; Neurologische Universitätsklinik (F.B.), Tübingen, Germany; Institute of Medical Genetics (T.Y.), Tokyo Women's Medical University, Japan; Diagnostics Division (U.R.D., A.B.D.), Center for DNA Fingerprinting and Diagnostics, Telangana, India; Shahrood Welfare Organization (P.J.), Shahrood, Iran; and Genetics Research Center (K.K., H.N.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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http://dx.doi.org/10.1212/NXG.0000000000000148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5446782PMC
June 2017

MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.

Am J Med Genet A 2017 May 29;173(5):1264-1269. Epub 2017 Mar 29.

Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.

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http://dx.doi.org/10.1002/ajmg.a.38168DOI Listing
May 2017

Development of psoriasis with relapse of dermatomyositis-associated interstitial lung disease.

Int J Rheum Dis 2017 May 10;20(5):660-661. Epub 2017 Apr 10.

Department of Dermatology, Fukushima Medical University, Fukushima, Japan.

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http://dx.doi.org/10.1111/1756-185X.13084DOI Listing
May 2017

Candida albicans-induced pustular lesions in mice.

J Dermatol 2017 May;44(5):596-597

Department of Dermatology, Fukushima Medical University, Fukushima, Japan.

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http://dx.doi.org/10.1111/1346-8138.13621DOI Listing
May 2017

An Xq22.1q22.2 nullisomy in a male patient with severe neurological impairment.

Am J Med Genet A 2017 Apr;173(4):1124-1127

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.38134DOI Listing
April 2017

A novel mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities.

Hum Genome Var 2017 16;4:17007. Epub 2017 Mar 16.

Department of Pediatrics, Graduate School of Medicine, Osaka City University , Osaka, Japan.

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http://dx.doi.org/10.1038/hgv.2017.7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5352948PMC
March 2017

Validation of the Japanese translation of the Dysphagia Handicap Index.

Patient Prefer Adherence 2017 1;11:193-198. Epub 2017 Feb 1.

Department of Physical Rehabilitation, National Center Hospital, National Center of Neurology and Psychiatry.

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http://dx.doi.org/10.2147/PPA.S126052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5295790PMC
February 2017

Eccrine Angiomatous Hamartoma in a Patient with Nevus Depigmentosus and Nevus Spilus.

Indian J Dermatol 2017 Jan-Feb;62(1):99-100

Department of Plastic Surgery, Fukushima Medical University, Fukushima, Japan.

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http://dx.doi.org/10.4103/0019-5154.198034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5286766PMC
February 2017

A Video Report of Brain-Lung-Thyroid Syndrome in a Japanese Female With a Novel Frameshift Mutation of the Gene.

Child Neurol Open 2016 Jan-Dec;3:2329048X16665012. Epub 2016 Aug 24.

Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.

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http://dx.doi.org/10.1177/2329048X16665012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417288PMC
August 2016