{"id":193,"date":"2018-11-30T21:36:30","date_gmt":"2018-11-30T21:36:30","guid":{"rendered":"http:\/\/ring14usa.com\/?page_id=193"},"modified":"2026-04-07T06:56:59","modified_gmt":"2026-04-07T11:56:59","slug":"bibliography","status":"publish","type":"page","link":"https:\/\/ring14usa.com\/index.php\/research\/bibliography\/","title":{"rendered":"Bibliography"},"content":{"rendered":"
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This is a list of the articles written on the syndromes of the chromosome 14 and related content.<\/p>\n

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Those interested in receiving a copy may send a written request to info@ring14.org<\/a>.<\/p>\n

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[2022] Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact.\u00a0<\/strong>The Commission of Novel Technologies for Neurodevelopmental Copy Number Variants in\u00a0American Journal of Human Genetics
Download PDF<\/a><\/strong><\/em><\/p>\n

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[2020] Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma.
<\/strong>Alessandro Vaisfeld\u2020, Serena Spartano, Giuseppe Gobbi, Annamaria Vezzani, Giovanni Neri 
<\/strong>in Epilepsia<\/em>
Download PDF<\/a><\/strong><\/p>\n

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[2020] Mother\u2013child dyadic co-regulation in children with intellectual disability: A comparison among dyads with children with chromosome 14 aberrations, Down syndrome and typical development<\/strong>
Laura Zampini and Paola Zanchi Giovanni Neri 
<\/strong>in JOURNAL OF INTELLECTUAL & DEVELOPMENTAL DISABILITY
Download PDF<\/a><\/strong><\/em><\/p>\n

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[2017] Guideline recommendations for diagnosis and clinical management of Ring14 syndrome\u2014first report of an ad hoc task force<\/b>
Berardo Rinaldi\u2020, Alessandro Vaisfeld\u2020, Sergio Amarri, Chiara Baldo, Giuseppe Gobbi, Pamela Magini, Erto Melli, Giovanni Neri, Francesca Novara, Tommaso Pippucci, Romana Rizzi, Annarosa Soresina, Laura Zampini, Orsetta Zuffardi and Marco Crimi
in Orphanet Journal of Rare Diseases<\/i>
Download PDF<\/a><\/p>\n

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[2017] Enamel Pit Defects and Taurodontism in a Patient with Ring Chromosome 14 and 47,XXX<\/b>
Townsend JA, Lacour L, Scheuerle AE.
in J Dent Child (Chic)<\/i><\/p>\n

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[2016] Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature.<\/b>
Salter CG, Baralle D, Collinson MN, Self JE
in Am J Med Genet A<\/i><\/p>\n

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[2016] Position effect modifying gene expression in a patient with ring chromosome 14.<\/b>
Guilherme RS, Moys\u00e9s-Oliveira M, Dantas AG, Meloni VA, Colovati ME, Kulikowski LD, Melaragno MI
in J Appl Genet<\/i><\/p>\n

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[2016] Galliera Genetic Bank: A DNA and Cell Line Biobank from Patients Affected by Genetic Diseases<\/b>
Chiara Baldo, Valeria Viotti, Elisabetta Maioli, Massimo Mogni, Mauro Castagnetta, Simona Cavani, Giuseppe Piombo, Domenico Coviello
in Open Journal of Bioresource<\/i><\/p>\n

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[2016] The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks<\/b>
Chiara Baldo, Lorena Casareto, Alessandra Renieri, Giuseppe Merla, Barbara Garavaglia, Stefano Goldwurm, Elena Pegoraro, Maurizio Moggio, Marina Mora, Luisa Politano, Luca Sangiorgi, Raffaella Mazzotti, Valeria Viotti1, Ilaria Meloni, Maria Teresa Pellico
in Orphanet Journal of Rare Diseases<\/i><\/p>\n

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[2015] Ring14 International: Development of a National-Based Patient Association towards a \u201cGlobal\u201d Network Initiative to Fight a Chromosomal Disorder<\/b>
Stefania Azzali, Yssa DeWoody, Berardo Rinaldi and Marco Crimi
in Journal of Genetic Disorders & Genetic Reports<\/i>
Download PDF<\/a><\/p>\n

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[2015] Dysregulation of FOXG1 by ring chromosome 14<\/b>
Alosi D
in Mol Cytogenet<\/i><\/p>\n

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[2014] Recurrent \u223c100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly.<\/b>
Prontera P
in Am J Med Genet A<\/i><\/p>\n

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[2014] Developing with ring 14 syndrome: a survey in different countries<\/b>
Zampini L
in Clin Linguist Phon<\/i><\/p>\n

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[2013] Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability<\/b>
Oehl-Jaschkowitz B
in Am J Med Genet A<\/i><\/p>\n

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[2013] Dysregulation of FOXG1 pathway in a 14q12 microdeletion case<\/b>
Perche
in Am J Med Genet A<\/i><\/p>\n

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[2013] Epilepsy in ring 14 syndrome: A clinical and EEG study of 22 patients<\/b>
Simona Giovannini, Lucia Marangio, Carlo Fusco, Angela Scarano, Daniele Frattini, Elvio Della Giustina, Marcella Zollino, Giovanni Neri and Giuseppe Gobbi
in Epilepsia<\/i><\/p>\n

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[2013] 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype<\/b>
Ellaway CJ, Ho G, Bettella E, Knapman A, Collins F, Hackett A, McKenzie F,Darmanian A, Peters GB, Fagan K, Christodoulou J
in Eur J Hum Genet<\/i><\/p>\n

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[2013] A 2.0 Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum.<\/b>
Takagi
in Eur J Hum Genet<\/i><\/p>\n

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[2013] Partial epilepsy and developmental delay in infant with ring chromosome 14<\/b>
Imataka G
in Genet Couns.<\/i><\/p>\n

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[2013] Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis<\/b>
Classen CF
in Hum Genet<\/i><\/p>\n

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[2013] A Case of Autism with Ring Chromosome 14<\/b>
Tajeran M
in Iran J Public Health<\/i><\/p>\n

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[2013] The effectiveness of lamotrigine in a case of ring chromosome 14 with refractory epilepsy<\/b>
Ogawa K
in No To Hattatsu<\/i><\/p>\n

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[2013] Ring chromosome 14 syndrome presenting with intractable epilepsy: a case report<\/b>
Incecik F
in Turk J Pediatr<\/i><\/p>\n

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[2012] 14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly<\/b>
Piccione
in Am J Med Genet A<\/i><\/p>\n

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[2012] A child with an inherited 0.31 Mb microdeletion of chromosome 14q32.33: further delineation of a critical region for the 14q32 deletion syndrome<\/b>
Holder JL Jr, Lotze TE, Bacino C, Cheung SW.
in American Journal of Medical Genetics<\/i><\/p>\n

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[2012] Prenatal diagnosis of a fetus with congenital heart defect and ring chromosome 14<\/b>
S\u00e1nchez J
in Case Rep Genet<\/i><\/p>\n

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[2012] History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?<\/b>
Jezela-Stanek A
in Clin Dysmorphol<\/i><\/p>\n

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[2012] Linguistic and psychomotor development in children with chromosome 14 deletions<\/b>
Laura Zampini, Laura D\u2019odorico, Paola Zanchi, Marcella Zollino, & Giovanni Neri
in Clinical Linguistics & Phonetics<\/i><\/p>\n

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[2012] Epilepsy in ring 14 chromosome syndrome<\/b>
Nicola Specchio, Marina Trivisano, Domenico Serino, Simona Cappelletti, Antonio Carotenuto, Dianela Claps, Carlo Efisio Marras, Lucia Fusco, Maurizio Elia, Federico Vigevano
in Epilepsy & Behavior<\/i><\/p>\n

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[2012] The ring 14 syndrome.<\/b>
Zollino M, Ponzi E, Gobbi G, Neri G.
in Europenan Journal of Medical Genetics<\/i><\/p>\n

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[2011] A clinical report and further delineation of the 14q32 deletion syndrome.<\/b>
Youngs EL
in Clin Dysmorphol<\/i><\/p>\n

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[2010] Ring chromosome 14 mosaicism: an unusual case associated with developmental delay and epilepsy, characterized by genome array-CGH<\/b>
Nucaro AL
in Am J Med Genet A<\/i><\/p>\n

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[2010] Cytogenetic and Molecular Evaluation and 20-Year Follow-Up of a Patient With Ring Chromosome 14<\/b>
Roberta Santos Guilherme, Vera de Freitas Ayres Meloni, Claudete Palmer Sodr\u00e9, Denise Maria Christofolini, Renata Pellegrino, Claudia Berlim de Mello, Laura Kathleen Conlin, Anne Lawlor Hutchinson, Nancy Bettina Spinner, Decio Brunoni, Leslie Domenici Kul
in American Journal of Medical Genetics<\/i><\/p>\n

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[2010] Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome<\/b>
Simona Giovannini, Daniele Frattini, Angela Scarano, Carlo Fusco, Gianna Bertani, Elvio Della Giustina, Paola Martinelli, Daniela Orteschi, Marcella Zollino, Giovanni Neri, Giuseppe Gobbi
in Epileptic Disord<\/i><\/p>\n

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[2009] A child with terminal 14q deletion syndrome: consideration of genotype-phenotype correlations<\/b>
Schlade-Bartusiak K
in Am J Med Genet A<\/i><\/p>\n

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[2009] The Ring14 Syndrome: Clinical and Molecular Definition<\/b>
Zollino M., Seminara L., Orteschi D., Gobbi G., Giovannini S., Della Giustina E., Frattini D., Scarano A., Neri G.
in American Journal of Medical Genetics<\/i><\/p>\n

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[2008] Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism<\/b>
Castermans D
in Eur J Hum Genet<\/i><\/p>\n

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[2008] Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia<\/b>
Quenum-Miraillet G
in Prenat Diagn<\/i><\/p>\n

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[2007] Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion<\/b>
Jeroen Knijnenburg, Arie van Haeringen, Kerstin BM Hansson, Arjan Lankester, Margot JM Smit, Ren\u00e9 DM Belfroid, Egbert Bakker, Carla Rosenberg, Hans J Tanke and K\u00e0roly Szuhai
in Europenan Journal of Human Genetics<\/i><\/p>\n

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[2007] Supernumerary minute ring chromosome 14 in a man with primary infertility and left varicocele.<\/b>
Stahl BC, Patil SR, Syrop CH, Sparks AE, Wald M
in Fertil Steril.<\/i><\/p>\n

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[2007] Mosaic trisomy r(14) associated with epilepsy and mental retardation<\/b>
Tzoufi M
in J Child Neurol<\/i><\/p>\n

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[2006] Deletion at 14q22-23 Indicates a Contiguous Gene Syndrome Comprising Anophthalmia, Pituitary Hypoplasia, and Ear Anomalies<\/b>
Leisha D. Nolen, David Amor, Ashley Haywood, Luke St. Heaps, Chris Willcock, Marija Mihelec,Patrick Tam, Frank Billson, John Grigg, Greg Peters, and Robyn V. Jamieson
in American Journal of Medical Genetics<\/i><\/p>\n

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[2006] Is There a Higher Incidence of Maternal Uniparental Disomy 14 [upd(14)mat]? Detection of 10 New Patients by Methylation-Specific PCR<\/b>
Diana Mitter, Karin Buiting, Ferdinand von Eggeling, Alma Kuechler, Thomas Liehr, Ulrike Angelika Mau-Holzmann, Eva-Christina Prott, Dagmar Wieczorek, and Gabriele Gillessen-Kaesbach
in American Journal of Medical Genetics<\/i><\/p>\n

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[2006] Terminal 14q32.33 Deletion: Genotype\u2013Phenotype Correlation<\/b>
M.-L. Maurin, S. Brisset, M. Le Lorc\u2019h, V. Poncet, P. Trioche, A. Aboura, P. Labrune, G. Tachdjian
in American Journal of Medical Genetics<\/i><\/p>\n

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[2006] Ring Chromosome 14 with Epilepsy and Development Delay<\/b>
Frenny J. Sheth, Nilang Soni.
in INDIAN PEDIATRICS<\/i><\/p>\n

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[2006] Molecular characterization of a novel translocation t(5;14)(q21;q32) in a patient with congenital abnormalities<\/b>
Shawkat Haider,Rie Matsumoto Nobuyuki Kurosawa , Keiko Wakui Yoshimitsu Fukushima, Masaharu Isobe
in J Hum Genet<\/i><\/p>\n

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[2006] Ocular manifestations of chromosome 14 terminal deletion<\/b>
Chung I, Chawla R, FitzGerald DE
in J Pediatr Ophthalmol Strabismus.<\/i><\/p>\n

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[2006] Prenatal diagnostic indicators of paternal uniparental disomy 14<\/b>
Logos Curtis, Eric Antonelli, Yvan Vial, Peter Rimensberger, Martine Le Merrer, Christine Hinard, Armand Bottani, Siv Fokstuen
in PRENATAL DIAGNOSIS<\/i><\/p>\n

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[2005] A Paternally Derived Inverted Duplication of Distal 14q With a Terminal 14q Deletion<\/b>
Chih-Ping Chen, Schu-Rern Chern, Shuan-Pei Lin, Chyi-Chyang Lin, Yueh-Chun Li, Tzu-Hao Wang, Chen-Chi Lee,Chen-Wen Pan, Lie-Jiau Hsieh, and Wayseen Wang
in American Journal of Medical Genetics<\/i><\/p>\n

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[2005] FISH-Mapping of Telomeric 14q32 Deletions: Search for the Cause of Seizures<\/b>
Kamilla Schlade-Bartusiak, Teresa Costa, Anne M. Summers, Malgorzata J.M. Nowaczyk, and Diane W. Cox
in American Journal of Medical Genetics<\/i><\/p>\n

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[2005] Maternal Uniparental Disomy 14 in a 15-Year-Old Boy With Normal Karyotype and No Evidence of Precocious Puberty<\/b>
Stefan Aretz, Ruth Raff, Peter Propping, Joachim Woelfle, Marianne Esser. Klaus Zerres Thomas Eggermann
in American Journal of Medical Genetics<\/i><\/p>\n

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[2005] Molecular Characterization of a 14q Deletion in a Boy With Features of Holt\u2013Oram Syndrome<\/b>
Nathalie Le Meur,Alice Goldenberg, Christine Michel-Adde, Vale\u00b4rie Drouin-Garraud, Ge\u00b4rard Blaysat, Ste\u00b4phane Marret, Saad Abu Amara, He\u00b4le`ne Moirot, Ge\u00b4raldine Joly-He\u00b4las, Bertrand Mace, Pascale Kleinfinger,Pascale Saugier-Veber, Thierry Fre\u00b4bourg, A
in American Journal of Medical Genetics<\/i><\/p>\n

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[2005] Segmental and Full Paternal Isodisomy for Chromosome 14 in Three Patients: Narrowing the Critical Region and Implication for the Clinical Features<\/b>
Masayo Kagami, Gen Nishimura, Torayuki Okuyama, Michiko Hayashidani, Toshio Takeuchi, Shinya Tanaka, Fumitoshi Ishino,Kenji Kurosawa, Tsutomu Ogata
in American Journal of Medical Genetics<\/i><\/p>\n

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[2005] Characterization of Chromosome 14 Abnormalities by Interphase In Situ Hybridization and Comparative Genomic Hybridization in 124 Meningiomas<\/b>
Mar\u00eda Dolores Tabernero, Ana Bel\u00e9n Espinosa, Angel Ma\u00edllo, Jos\u00e9 Mar\u00eda Sayagu\u00e9s, Mar\u00eda del Carmen Alguero, Eva Lumbreras, Pedro D\u00edaz, Jes\u00fas Mar\u00eda Gon\u00c7alves, Ignacio Onzain,Marta Merino, Francisco Morales, Alberto Orfao.
in Anatomic Pathology<\/i><\/p>\n

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[2005] Distal trisomy 10q\/partial monosomy 14q: an unusual clinical picture<\/b>
Bregant L, Gersak K, Veble A
in Genet Couns.<\/i><\/p>\n

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[2005] Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes<\/b>
Kamnasaran D, Chen CP, Devriendt K, Mehta L, Cox DW
in Genomics.<\/i><\/p>\n

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[2004] Concerning \u2018\u201814q(22) Deletion in a Familial Case of Anophthalmia With Polydactyly\u2019\u2019<\/b>
Gopalrao V.N. Velagaleti
in American Journal of Medical Genetics<\/i><\/p>\n

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[2004] Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosis<\/b>
Hou JW
in Chang Gung Med J.<\/i><\/p>\n

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[2004] Mosaic monosomy 14: clinical features and recognizable facies<\/b>
V. McConnell, R. Derham, D. McManus and P.J. Morrison
in Clinical Dysmorphology<\/i><\/p>\n

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[2004] De novo paracentric inversion 14q13q24.1 in a patient with severe involuntary movements, epilepsy, oligodontia and dysmorphic features<\/b>
Peippo M, Tengstrom C, Arvio M, Valanne L, Oksanen V, Kaakkola S, Ignatius J
in Genet Couns.<\/i><\/p>\n

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[2004] Interstitial deletion of chromosome 14q in a Taiwanese infant with microcephaly<\/b>
Su PH, Chen SJ, Lee IC, Wang KL, Chen JY, Hung HM, Lee CF.
in J Formos Med Assoc.<\/i><\/p>\n

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[2004] Molecular characterisation of a 3.5 Mb 14q deletion in a child with several phenotypic anomalies<\/b>
E Petek, B Plecko-Startinig, C Windpassinger, H Egger, K Wagner and P M Kroisel
in J. Med. Genet<\/i><\/p>\n

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[2004] Trisomy 14 Mosaicism: A Case Report and Review of the Literature<\/b>
M. Fran Lynch, Caraciolo J. Fernandes, Lisa G. Shaffer, Lorraine Potocki.
in Journal of Perinatology<\/i><\/p>\n

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[2004] Ring chromosome 14 syndrome: a case report<\/b>
Li R, Zhao ZY, Sun LY, Zheng X
in Zhonghua Er Ke Za Zhi.<\/i><\/p>\n

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[2003] 14q(22) Deletion in a Familial Case of Anophthalmia With Polydactyly (Clinical Report)<\/b>
M.E. Ahmad, Rima Dada, Tanuj Dada, Kiran Kucheria
in American Journal of Medical Genetics<\/i><\/p>\n

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[2003] Stable Dicentric Duplication-Deficiency Chromosome 14 Resulting from Crossing-Over Within a Maternal Paracentric Inversion<\/b>
Genevie`ve Lefort, Patricia Blanchet,Nabia Belgrade,Franc\u00b8ois Rivier, Anne Marie Chaze, Pierre Sarda, Jacques Demaille, and Franck Pellestor.
in American Journal of Medical Genetics<\/i><\/p>\n

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[2003] Ring chromosome 14 with localization-related epilepsy: three cases<\/b>
Masafumi Morimoto, Tomohiro Usuku, Masayuki Tanaka, Osamu Otabe, Akira Nishimura, Masaharu Ochi, \u2020Yoshihiro Takeuchi, Hiroshi Yoshioka, and Tohru Sugimoto
in Epilepsia<\/i><\/p>\n

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[2003] A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3<\/b>
R G Ruf, J Berkman, M T F Wolf, P Nurnberg, M Gattas, E-M Ruf, V Hyland, J Kromberg, I Glass, J Macmillan, E Otto, G Nurnberg, B Lucke, H C Hennies and F Hildebrandt
in J. Med. Genet.<\/i><\/p>\n

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[2002] Further Delineation of the Chromosome 14q Terminal Deletion Syndrome<\/b>
Clara D.M. van Karnebeek, Safira Quik, Sigrid Sluijter,Miriam M.F. Hulsbeek, Jan M.N. Hoovers, and Raoul C.M. Hennekam.
in American Journal of Medical Genetics<\/i><\/p>\n

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[2002] Subtelomeric FISH Uncovers Trisomy 14q32: Lessons for Imprinted Regions, Cryptic Rearrangements and Variant Acrocentric Short Arms<\/b>
V. Reid Sutton, Karen J. Coveler, Seema R. Lalani, Catherine D. Kashork, Lisa G. Shaffer.
in American Journal of Medical Genetics<\/i><\/p>\n

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[2002] A case of segmental paternal isodisomy of chromosome 14<\/b>
Karen J. Coveler \u00b7 Sam P. Yang \u00b7 V. Reid Sutton \u00b7 Jay M. Milstein \u00b7 Yuan-Qing Wu \u00b7 Cami Knox-Du Bois \u00b7 Linda S. Beischel \u00b7 John P. Johnson \u00b7 Lisa G. Shaffer
in Hum Genet<\/i><\/p>\n

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[2000] Search for imprinted regions on chromosome 14:omparison on maternal and paternal UPD cases with cases of chromosome 14 deletions<\/b>
V. Reid Sutton, Lisa G. Shaffer.
in American Journal of medical genetics<\/i><\/p>\n

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[2000] An adult patient with a distal interstitial 14q deletion: clinical report and literature review<\/b>
Spruijt, Van Der Blij
in Genet Couns<\/i><\/p>\n

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[2000] 14q terminal deletion: prenatal diagnosis in a child with severe congenital anomalies<\/b>
Mertens DJ, De Die-Smulders CE, Kampschoer PH, Offermans JP, Engelen JJ, Hamers AJ, Lammens M, Schrander-Stumpel CT
in Genet. Couns<\/i><\/p>\n

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[2000] Maternal uniparental heterodisomy of chromosome14: chromosomal mechanism and clinical follow up<\/b>
Munnich, M Vekemans and N Morichon-Delvallez D Sanlaville, M C Aubry, Y Dumez, M C Nolen, J Amiel, M P Pinson, S Lyonnet, A
in J. Med. Genet<\/i><\/p>\n

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[2000] A case of ring 14 chromosome with ocular manifestation<\/b>
Hisatomi, Kira
in Nippon Ganka Gakkai<\/i><\/p>\n

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[2000] A case of ring 14 chromosome with ocular manifestations<\/b>
Hisatomi T, Kira R, Sakamoto T, Inomata H.
in Nippon Ganka Gakkai Zasshi.<\/i><\/p>\n

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[2000] Abnormal Myelination in a Patient With Deletion 14q11.2q13.1<\/b>
Gian P. Ramelli, Karl O. Lo\u00a8vblad, Hans Hirsiger, Hans Moser.
in PEDIATRIC NEUROLOGY<\/i><\/p>\n

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[1999] Ring chromosome 14 complicated with partial seizures and hypoplastic corpus callosum<\/b>
Jiro Ono, Kazuhiko Nishiike, Katsumi Imai, Kazumasa Otani, and Shintaro Okada
in Pediatric Neurology<\/i><\/p>\n

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[1999] Prenatal diagnosis of a mosaic extra structurally abnormal chromosome by spectral karyotyping<\/b>
Ning Y
in PRENATAL DIAGNOSIS<\/i><\/p>\n

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[1998] Submicroscopic deletion in 14q32.3 through a de novo tandem translocation between 14q and 21p<\/b>
Meschede, Exeler
in Am J Med Genet<\/i><\/p>\n

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[1998] Ring chromosome 14: report of a new case<\/b>
Campos, Casado
in An Esp Pediatr<\/i><\/p>\n

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[1998] Microcephaly with chorioretinal degeneration<\/b>
Atchaneeyasakul LO
in Ophthalmic Genet<\/i><\/p>\n

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[1997] Another case of maternal uniparental disomy chromosome 14 syndrome<\/b>
Splitt, Goodship
in Am J Med Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1997] Prenatal diagnosis of ring chromosome 14 after intracytoplasmic sperm injection<\/b>
Jean, Rival
in Fertil Steril<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1997] Delineation of 14q32.3 deletion syndrome<\/b>
A P Ortigas, Constance K Stein, Laura L Thomson, J J Hoo
in Journal of Medical Genetics<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1995] Molecular analysis redefines three human chromosome 14 deletion<\/b>
Wintle, Costa
in Hum Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1994] A linkage map of human chromosome 14, including 13 gene loci<\/b>
Cox, Billingsley
in Genomics<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1993] Epilepsy in a child with ring chromosome 14<\/b>
Midro, Zadrozna
in Neurol Neurochir Pol<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1992] Childs with multgiple congenital anomalies and mosaicism 46,XX\/46,Xxdel(14)(q32,2)<\/b>
Miller, Jayakar
in Am J Med Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1992] A further case of terminal (14)(q32.2) in a child with mild dysmorphic features<\/b>
Wang, Allanson
in Ann Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1992] Ring 14 chromosome with complex partial seizures: a case report<\/b>
Shirasaka, Ito
in Brain Dev<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1992] Ring chromosome 14<\/b>
Rudenskaia
in Pediatriia<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1992] The ring chromosome 14 syndrome<\/b>
Kristensen, Wieg
in Ugeskr Laeger<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1991] Ring chromosome 14 Syndrome: report of two cases including extended evaluation of a previously reported patient and review<\/b>
Zelante, Torricelli
in Ann Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1991] Report of the commitee on the genetic constitution of chromosome 14<\/b>
Cox, Nakamura
in Cytogenet Cell Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1991] Localization and genetic linkage of the human immunoglobulin heavy chain genes and the creatine kinase brain gene: identification of a hot spot for recombination<\/b>
Benger, Teshima
in Genomics<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1990] Transmission of ring 14 chromosome from mother to two sons<\/b>
Matalon, Supple
in Am J Med Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1990] Syndrome r14 sans dysmorphie majeure<\/b>
Blois, Caille
in Ann Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1990] Physical mapping of probes within 14q32, a subteloremic region showing high recombination frequency<\/b>
Hofker, Smith
in Genomics<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1990] Terminal deletion (14)(q32.3): a new case<\/b>
Telford, Thomson
in Med Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1989] Epilepsy in ring chromosome 14 syndrome<\/b>
Duarte, Lison
in Arq Neuropsiquiatr<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1989] Unusual cytogenetic mosaicism involving chromosome 14 abnormalities in a child with an MR\/MCA syndrome and abnormal pigmentation<\/b>
Cant\u00f9, Thomas
in Clin Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1989] Molecular characterization of a ring chromosome 14 showing that the PI locus is Centrometric to the D14S1 and IGH loci<\/b>
Keyeux, Gilgenkrantz
in Hum Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1989] A terminal deletion (14) (q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation<\/b>
Yen, Podruch
in J Med Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1988] Retinal\/macular pigmentation in conjunction with ring 14 chromosome<\/b>
Howard, Clark
in Hum Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1987] Ring chromosome 14 without deletion<\/b>
Angelova, Mitreva
in Acta Pediatr Hung<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1987] A primary genetic linkage map of distal chromosome 14q<\/b>
Nakamura, Leppert
in Cytogent Cell Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1987] Does ring syndrome exist? An analysis of 207 case reports on patients with a ring autosome<\/b>
Kosztolanyi
in Hum Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1986] Clinical findings in an arab boy with ring (14)(mos 46,XY,r(14)\/45,XY,-14)<\/b>
Portoian-Shuhaiber
in Ann Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1986] Ocular findings in a patient with deletion short arm chromosome 5 (cri-du-chat) and ring 14 chromosome<\/b>
Clark, Howard
in Trans Ophthalmol Soc UK<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1985] 2 new cases of ring chromosome 14<\/b>
Caille, Rethore
in Ann Pediatr<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1985] De novo reciprocal translocation t(6;14)(q27;q13.3) in a child with infantile spasms<\/b>
Hattori, H
in Epilepsia<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1985] Distal monosomy 14 not associated with ring formation<\/b>
Hreidarsson, Stamberg
in J Med Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1984] Ring chromosome 14 and immunoglobulin locus<\/b>
Krawczun, Melink
in Am J Med Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1984] Chromosome 14 en anneau une observation de r(14) en mosaique le ph\u00e8notype r(14)<\/b>
Rethor\u00e9, Caille
in Ann Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1984] Chromosome 14 en anneau une observation de r(14) homog\u00e8ne<\/b>
Raolu, Razavi
in Ann Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1984] Ring-14 and trisomyq in the same child<\/b>
Pangalos, Velissariou
in Ann Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1984] The r(14) syndrome. Three new observations<\/b>
Gilgenkrantz, Morali
in Ann Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1983] Anomalies oculaires du ph\u00e9notype 46,XY,r(14)<\/b>
Guillot, Dufier
in Arch Fr Pediatr<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1983] Ring 14 syndrome with decreased bone mineral content in two pubertal Girls<\/b>
Ieshima, Takeshita
in Hum Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1983] Ring chromosome 14. A distinct clinical entity<\/b>
Fryns, Kubien
in J Genet Hum<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1983] Analysis of a break in chromosome 14 mapping to the region of the immunoglobulin heavy chain locus<\/b>
Linsley, Bech-Hansen
in Proc Natl Acad Sci USA<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1982] Ring chromosome 14 syndrome<\/b>
Fryns, Petit
in Ann Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1981] Ring 14 chromosome: association with seizures<\/b>
Lippe, Sparkes
in Am J Med Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1981] Infant male with ring chromosome 14<\/b>
Triolo, Serra
in Ann Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1981] Inheritance of a ring 14 chromosome<\/b>
S Bowser Riley, K E Buckton, S G Ratcliffe, and J Syme
in J Med Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1981] Ring chromosome 14: a distinct clinical entity<\/b>
Rina Schmidt, Lydia Eviatar, Harold M Nitowsky, Martha Wong, and Sylvia Miranda
in J Med Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1980] Ring chromosome 14 in a mentally retarded girl<\/b>
Iselius, Ritzen
in Acta Pediatr Scand<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1980] A Ring 14 chromosome with deleted short arm<\/b>
Amarose, Huttenlocher
in Hum Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1980] Ring 14 chromosome and choreoathetosis<\/b>
McBride, Oppenheimer
in Neurology<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1979] Ring chromosome 14 identified by banding thecniques<\/b>
Vekemans, Watters
in Am J Med Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1978] Formation of a ring chromosome 14 subsequent to the de novo 13\/14 reciprocal translocation: a new cytogenetic evidence obtained by nucleolus-organizer staining<\/b>
Abe, Misawa
in Ann Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1978] Cromosoma 14 ad anello<\/b>
Torricelli, Giovannucci
in Nuove sindromi cromosomiche patologia autosomica soc Ed Universo<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1977] Extended evaluation of previously reported twins with a ring 14 chromosome<\/b>
Sparkes, Klisak
in Ann Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1977] Ring chromosome 14 in monozygotic twins<\/b>
Jalbert, Sele
in Ann Genet<\/i><\/p>\n

<\/p>\n

<\/p>\n

[1977] Multiple congenital malformations in a child with ring 14 chromosome<\/b>
Dzarlieva
in Med Fak Skopje<\/i><\/p>\n

<\/p>\n<\/div>\n<\/div><\/div><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"

This is a list of the articles written on the syndromes of the chromosome 14 and related content. Those interested in receiving a copy may send a written request to info@ring14.org. [2022] Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact.\u00a0The Commission of Novel Technologies for Neurodevelopmental […]<\/p>\n","protected":false},"author":3,"featured_media":0,"parent":70,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"advanced_seo_description":"","jetpack_seo_html_title":"","jetpack_seo_noindex":false,"jetpack_seo_schema_type":"","footnotes":""},"class_list":["post-193","page","type-page","status-publish","hentry"],"jetpack_sharing_enabled":false,"jetpack_shortlink":"https:\/\/wp.me\/P7sRw4-37","jetpack_likes_enabled":false,"jetpack-related-posts":[],"_links":{"self":[{"href":"https:\/\/ring14usa.com\/index.php\/wp-json\/wp\/v2\/pages\/193","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/ring14usa.com\/index.php\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/ring14usa.com\/index.php\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/ring14usa.com\/index.php\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/ring14usa.com\/index.php\/wp-json\/wp\/v2\/comments?post=193"}],"version-history":[{"count":5,"href":"https:\/\/ring14usa.com\/index.php\/wp-json\/wp\/v2\/pages\/193\/revisions"}],"predecessor-version":[{"id":2571,"href":"https:\/\/ring14usa.com\/index.php\/wp-json\/wp\/v2\/pages\/193\/revisions\/2571"}],"up":[{"embeddable":true,"href":"https:\/\/ring14usa.com\/index.php\/wp-json\/wp\/v2\/pages\/70"}],"wp:attachment":[{"href":"https:\/\/ring14usa.com\/index.php\/wp-json\/wp\/v2\/media?parent=193"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}