Journal of Medical Case Reports

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	1.	Case report Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series Elizabeth Bygarski, Melanie Paterson, Edmond G Lemire Journal of Medical Case Reports 2013, 7:117 (26 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	2.	Case report Successful outcome after laparoscopic surgery for sporadic colonic desmoid tumor with β-catenin mutation: a case report Shutaro Gunji, Kenji Kawada, Mayumi Kawada, Suguru Hasegawa, Yoshiharu Sakai Journal of Medical Case Reports 2013, 7:100 (10 April 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
	3.	Case report Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports Zhimin Xiong, Yanmei Lu, Jinjie Xue, Sanchuan Luo, Xiaojuan Xu, Lusi Zhang, Hao Peng, Wei Li, Dengming Chen, Zhengmao Hu, Kun Xia Journal of Medical Case Reports 2013, 7:63 (8 March 2013) Abstract \| Full text \| PDF \| PubMed
	4.	Case report Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report Fumihiro Kashizaki, Atsushi Hatamochi, Kazunori Kamiya, Akira Yoshizu, Hiroaki Okamoto Journal of Medical Case Reports 2013, 7:35 (1 February 2013) Abstract \| Full text \| PDF \| PubMed
	5.	Case report A novel missense mutation in the CLCN7 gene linked to benign autosomal dominant osteopetrosis: a case series Ban Mousa Rashid, Nawshirwan Gafoor Rashid, Ansgar Schulz, Georgia Lahr, Beston Faiek Nore Journal of Medical Case Reports 2013, 7:7 (9 January 2013) Abstract \| Full text \| PDF \| PubMed
	6.	Case report Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report Johannes Skorpen, Ingrid B Helland, Bjørn Tennøe Journal of Medical Case Reports 2012, 6:383 (12 November 2012) Abstract \| Full text \| PDF \| PubMed
	7.	Case report Clinical correlation between premature ovarian failure and a chromosomal anomaly in a 22-year-old Caucasian woman: a case report Domenico Dell’Edera, Andrea Tinelli, Oronzo Capozzi, Annunziata Epifania, Antonio Malvasi, Dominga Lofrese, Elena Pacella, Giusi Milazzo, Eleonora Mazzone, Manuela Leo, Mariano Rocchi Journal of Medical Case Reports 2012, 6:368 (29 October 2012) Abstract \| Full text \| PDF \| PubMed
	8.	Case report 46,XX ovotesticular disorder in a Mexican patient with Beckwith–Wiedemann syndrome: a case report Nelly Macías-Gómez, Evelia Leal-Ugarte, Melva Gutiérrez-Angulo, Guadalupe Domínguez-Quezada, Horacio Rivera, Patricio Barros-Núñez Journal of Medical Case Reports 2012, 6:301 (13 September 2012) Abstract \| Full text \| PDF \| PubMed
	9.	Case report Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report Roberta S Guilherme, Vera de FA Meloni, Sylvia S Takeno, Renata Pellegrino, Decio Brunoni, Leslie D Kulikowski, Maria I Melaragno Journal of Medical Case Reports 2012, 6:283 (7 September 2012) Abstract \| Full text \| PDF \| PubMed
	10.	Case report A two-day-old hyperthyroid neonate with thyroid hormone resistance born to a mother with well-controlled Graves’ disease: a case report Shuichi Yatsuga, Yuji Hiromatsu, Shigekazu Sasaki, Hirotoshi Nakamura, Koju Katayama, Junko Nishioka, Yasutoshi Koga Journal of Medical Case Reports 2012, 6:246 (20 August 2012) Abstract \| Full text \| PDF \| PubMed
	11.	Case report Gorlin syndrome presenting with a unilateral ovarian fibroma in a 22-year-old woman: a case report Terence Finch, Chitra Pushpanathan, Krista Brown, Yasser El-Gohary Journal of Medical Case Reports 2012, 6:148 (12 June 2012) Abstract \| Full text \| PDF \| PubMed
	12.	Case report Disease flare of ankylosing spondylitis presenting as reactive arthritis with seropositivity: a case report EM Manoj, MK Ragunathan Journal of Medical Case Reports 2012, 6:60 (14 February 2012) Abstract \| Full text \| PDF \| PubMed
	13.	Case report Chromosomal 16p microdeletion in Rubinstein-Taybi syndrome detected by oligonucleotide-based array comparative genomic hybridization: a case report Md A Mohd Fadley, Azli Ismail, Thong Keong, Narazah Yusoff, Zubaidah Zakaria Journal of Medical Case Reports 2012, 6:30 (23 January 2012) Abstract \| Full text \| PDF \| PubMed
	14.	Case report Cleidocranial dysplasia presenting with retained deciduous teeth in a 15-year-old girl: a case report Nagarathna C, Bethur Shakuntala, Somy Mathew, Navin Krishnamurthy, Ratna Yumkham Journal of Medical Case Reports 2012, 6:25 (19 January 2012) Abstract \| Full text \| PDF \| PubMed
	15.	Case report Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports Julia Vogt, Rosa Nguyen, Lan Kluwe, Martin Schuhmann, Angelika C Roehl, Tanja Mußotter, David N Cooper, Victor-Felix Mautner, Hildegard Kehrer-Sawatzki Journal of Medical Case Reports 2011, 5:577 (12 December 2011) Abstract \| Full text \| PDF \| PubMed
	16.	Case report Primary adenocarcinoma in the ileostomy of a woman with familial adenomatous polyposis: a case report and literature review Ahmed Hammad, Raed Tayyem, Peter J Milewski, Shanmugavelu Gunasekaran Journal of Medical Case Reports 2011, 5:556 (30 November 2011) Abstract \| Full text \| PDF \| PubMed
	17.	Case report Aberrant DNA methylation of cancer-related genes in giant breast fibroadenoma: a case report Diego M Marzese, Francisco E Gago, Javier I Orozco, Olga M Tello, María Roqué, Laura M Vargas-Roig Journal of Medical Case Reports 2011, 5:516 (18 October 2011) Abstract \| Full text \| PDF \| PubMed
	18.	Case report Hyperferritinemia without iron overload in patients with bilateral cataracts: a case series Arne Kröger, Esther B Bachli, Andrew Mumford, Christoph Gubler Journal of Medical Case Reports 2011, 5:471 (21 September 2011) Abstract \| Full text \| PDF \| PubMed
	19.	Case report Multiple cavernous malformations presenting in a patient with Poland syndrome: A case report Karlo J Lizarraga, Antonio AF De Salles Journal of Medical Case Reports 2011, 5:469 (20 September 2011) Abstract \| Full text \| PDF \| PubMed
	20.	Case report Challenges in clinical and laboratory diagnosis of androgen insensitivity syndrome: a case report Caroline OA Melo, Daniela M Silva, Aparecido D da Cruz Journal of Medical Case Reports 2011, 5:446 (8 September 2011) Abstract \| Full text \| PDF \| PubMed
	21.	Case report Management of a rare case of arrhythmogenic right ventricular dysplasia in pregnancy: a case report Nilgün Güdücü, Salih Kutay, Ebru Özenç, Çavlan Çiftçi, Alin Yiğiter, Herman İşçi Journal of Medical Case Reports 2011, 5:300 (10 July 2011) Abstract \| Full text \| PDF \| PubMed
	22.	Case report Chromosome 3q29 deletion with gastrointestinal malformation: a case report Ma'in Masarweh Journal of Medical Case Reports 2011, 5:285 (5 July 2011) Abstract \| Full text \| PDF \| PubMed
	23.	Case report Gabapentin for complex regional pain syndrome in Machado-Joseph disease: a case report Yang-Ching Lo, Kwong-Kum Liao, Yi-Chung Lee, Bing-Wen Soong Journal of Medical Case Reports 2011, 5:268 (1 July 2011) Abstract \| Full text \| PDF \| PubMed
	24.	Case report Premature ovarian failure in a woman with a balanced 15;21 translocation: a case report Sayedehafagh Hosseini, Marzieh Vahid Dastjerdi, Zahra Asgari, Haydeh Samiee Journal of Medical Case Reports 2011, 5:250 (29 June 2011) Abstract \| Full text \| PDF \| PubMed
	25.	Case report Identification of a novel de novo mutation in the NIPBL gene in an Iranian patient with Cornelia de Lange syndrome: A case report Hamid Galehdari, Roya Monajemzadeh, Habibolah Nazem, Gholamreza Mohamadian, Mohammad Pedram Journal of Medical Case Reports 2011, 5:242 (27 June 2011) Abstract \| Full text \| PDF \| PubMed