Bibliografía
Esta es la lista de los art�culos escritos sobre las s�ndromes del cromosoma 14.
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[2017] Enamel Pit Defects and Taurodontism in a Patient with Ring Chromosome 14 and 47,XXX
Townsend JA, Lacour L, Scheuerle AE.
in J Dent Child (Chic)
The purpose of this paper is to describe the clinical findings and management of a case involving a patient with co-occurring ring chromosome 14 syndrome and 47,XXX presenting with enamel pit defects and taurodontism. Ring chromosome 14 syndrome is an unusual condition with uncontrolled seizure disorder as its most significant finding; 47,XXX (trisomy X; triple X) is a more common condition and has characteristic physical and behavioral findings. Neither condition has been associated with enamel pit defects.
[2017] Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force
Berardo Rinaldi†, Alessandro Vaisfeld†, 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
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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.
Salter CG, Baralle D, Collinson MN, Self JE
in Am J Med Genet A
[2016] Position effect modifying gene expression in a patient with ring chromosome 14.
Guilherme RS, Moysés-Oliveira M, Dantas AG, Meloni VA, Colovati ME, Kulikowski LD, Melaragno MI
in J Appl Genet
[2016] Galliera Genetic Bank: A DNA and Cell Line Biobank from Patients Affected by Genetic Diseases
Chiara Baldo, Valeria Viotti, Elisabetta Maioli, Massimo Mogni, Mauro Castagnetta, Simona Cavani, Giuseppe Piombo, Domenico Coviello
in Open Journal of Bioresource
[2016] The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks
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
[2015] Ring14 International: Development of a National-Based Patient Association towards a “Global” Network Initiative to Fight a Chromosomal Disorder
Stefania Azzali, Yssa DeWoody, Berardo Rinaldi and Marco Crimi
in Journal of Genetic Disorders & Genetic Reports
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[2015] Dysregulation of FOXG1 by ring chromosome 14
Alosi D
in Mol Cytogenet
[2014] Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly.
Prontera P
in Am J Med Genet A
[2014] Developing with ring 14 syndrome: a survey in different countries
Zampini L
in Clin Linguist Phon
[2013] Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability
Oehl-Jaschkowitz B
in Am J Med Genet A
[2013] Dysregulation of FOXG1 pathway in a 14q12 microdeletion case
Perche
in Am J Med Genet A
[2013] Epilepsy in ring 14 syndrome: A clinical and EEG study of 22 patients
Simona Giovannini, Lucia Marangio, Carlo Fusco, Angela Scarano, Daniele Frattini, Elvio Della Giustina, Marcella Zollino, Giovanni Neri and Giuseppe Gobbi
in Epilepsia
[2013] 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype
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
Rett syndrome is a clinically defined neurodevelopmental disorder almost exclusively affecting females. Usually sporadic, Rett syndrome is caused by mutations in the X-linked MECP2 gene in ∼90-95% of classic cases and 40-60% of individuals with atypical Rett syndrome. Mutations in the CDKL5 gene have been associated with the early-onset seizure variant of Rett syndrome and mutations in FOXG1 have been associated with the congenital Rett syndrome variant. We report the clinical features and array CGH findings of three atypical Rett syndrome patients who had severe intellectual impairment, early-onset developmental delay, postnatal microcephaly and hypotonia. In addition, the females had a seizure disorder, agenesis of the corpus callosum and subtle dysmorphism. All three were found to have an interstitial deletion of 14q12. The deleted region in common included the PRKD1 gene but not the FOXG1 gene. Gene expression analysis suggested a decrease in FOXG1 levels in two of the patients. Screening of 32 atypical Rett syndrome patients did not identify any pathogenic mutations in the PRKD1 gene, although a previously reported frameshift mutation affecting FOXG1 (c.256dupC, p.Gln86ProfsX35) was identified in a patient with the congenital Rett syndrome variant. There is phenotypic overlap between congenital Rett syndrome variants with FOXG1 mutations and the clinical presentation of our three patients with this 14q12 microdeletion, not encompassing the FOXG1 gene. We propose that the primary defect in these patients is misregulation of the FOXG1 gene rather than a primary abnormality of PRKD1.
[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.
Takagi
in Eur J Hum Genet
[2013] Partial epilepsy and developmental delay in infant with ring chromosome 14
Imataka G
in Genet Couns.
[2013] Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis
Classen CF
in Hum Genet
[2013] A Case of Autism with Ring Chromosome 14
Tajeran M
in Iran J Public Health
[2013] The effectiveness of lamotrigine in a case of ring chromosome 14 with refractory epilepsy
Ogawa K
in No To Hattatsu
[2013] Ring chromosome 14 syndrome presenting with intractable epilepsy: a case report
Incecik F
in Turk J Pediatr
[2012] 14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly
Piccione
in Am J Med Genet A
[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
Holder JL Jr, Lotze TE, Bacino C, Cheung SW.
in American Journal of Medical Genetics
[2012] Prenatal diagnosis of a fetus with congenital heart defect and ring chromosome 14
Sánchez J
in Case Rep Genet
[2012] History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?
Jezela-Stanek A
in Clin Dysmorphol
[2012] Linguistic and psychomotor development in children with chromosome 14 deletions
Laura Zampini, Laura D’odorico, Paola Zanchi, Marcella Zollino, & Giovanni Neri
in Clinical Linguistics & Phonetics
[2012] Epilepsy in ring 14 chromosome syndrome
Nicola Specchio, Marina Trivisano, Domenico Serino, Simona Cappelletti, Antonio Carotenuto, Dianela Claps, Carlo Efisio Marras, Lucia Fusco, Maurizio Elia, Federico Vigevano
in Epilepsy & Behavior
[2012] The ring 14 syndrome.
Zollino M, Ponzi E, Gobbi G, Neri G.
in Europenan Journal of Medical Genetics
[2011] A clinical report and further delineation of the 14q32 deletion syndrome.
Youngs EL
in Clin Dysmorphol
[2010] Ring chromosome 14 mosaicism: an unusual case associated with developmental delay and epilepsy, characterized by genome array-CGH
Nucaro AL
in Am J Med Genet A
[2010] Cytogenetic and Molecular Evaluation and 20-Year Follow-Up of a Patient With Ring Chromosome 14
Roberta Santos Guilherme, Vera de Freitas Ayres Meloni, Claudete Palmer Sodré, 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
[2010] Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome
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
[2009] A child with terminal 14q deletion syndrome: consideration of genotype-phenotype correlations
Schlade-Bartusiak K
in Am J Med Genet A
[2009] The Ring14 Syndrome: Clinical and Molecular Definition
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
[2008] Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism
Castermans D
in Eur J Hum Genet
[2008] Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia
Quenum-Miraillet G
in Prenat Diagn
[2007] Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion
Jeroen Knijnenburg, Arie van Haeringen, Kerstin BM Hansson, Arjan Lankester, Margot JM Smit, René DM Belfroid, Egbert Bakker, Carla Rosenberg, Hans J Tanke and Kàroly Szuhai
in Europenan Journal of Human Genetics
[2007] Supernumerary minute ring chromosome 14 in a man with primary infertility and left varicocele.
Stahl BC, Patil SR, Syrop CH, Sparks AE, Wald M
in Fertil Steril.
[2007] Mosaic trisomy r(14) associated with epilepsy and mental retardation
Tzoufi M
in J Child Neurol
[2006] Deletion at 14q22-23 Indicates a Contiguous Gene Syndrome Comprising Anophthalmia, Pituitary Hypoplasia, and Ear Anomalies
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
[2006] Is There a Higher Incidence of Maternal Uniparental Disomy 14 [upd(14)mat]? Detection of 10 New Patients by Methylation-Specific PCR
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
[2006] Terminal 14q32.33 Deletion: Genotype–Phenotype Correlation
M.-L. Maurin, S. Brisset, M. Le Lorc’h, V. Poncet, P. Trioche, A. Aboura, P. Labrune, G. Tachdjian
in American Journal of Medical Genetics
[2006] Ring Chromosome 14 with Epilepsy and Development Delay
Frenny J. Sheth, Nilang Soni.
in INDIAN PEDIATRICS
[2006] Molecular characterization of a novel translocation t(5;14)(q21;q32) in a patient with congenital abnormalities
Shawkat Haider,Rie Matsumoto Nobuyuki Kurosawa , Keiko Wakui Yoshimitsu Fukushima, Masaharu Isobe
in J Hum Genet
[2006] Ocular manifestations of chromosome 14 terminal deletion
Chung I, Chawla R, FitzGerald DE
in J Pediatr Ophthalmol Strabismus.
[2006] Prenatal diagnostic indicators of paternal uniparental disomy 14
Logos Curtis, Eric Antonelli, Yvan Vial, Peter Rimensberger, Martine Le Merrer, Christine Hinard, Armand Bottani, Siv Fokstuen
in PRENATAL DIAGNOSIS
[2005] A Paternally Derived Inverted Duplication of Distal 14q With a Terminal 14q Deletion
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
[2005] FISH-Mapping of Telomeric 14q32 Deletions: Search for the Cause of Seizures
Kamilla Schlade-Bartusiak, Teresa Costa, Anne M. Summers, Malgorzata J.M. Nowaczyk, and Diane W. Cox
in American Journal of Medical Genetics
[2005] Maternal Uniparental Disomy 14 in a 15-Year-Old Boy With Normal Karyotype and No Evidence of Precocious Puberty
Stefan Aretz, Ruth Raff, Peter Propping, Joachim Woelfle, Marianne Esser. Klaus Zerres Thomas Eggermann
in American Journal of Medical Genetics
[2005] Molecular Characterization of a 14q Deletion in a Boy With Features of Holt–Oram Syndrome
Nathalie Le Meur,Alice Goldenberg, Christine Michel-Adde, Vale´rie Drouin-Garraud, Ge´rard Blaysat, Ste´phane Marret, Saad Abu Amara, He´le`ne Moirot, Ge´raldine Joly-He´las, Bertrand Mace, Pascale Kleinfinger,Pascale Saugier-Veber, Thierry Fre´bourg, A
in American Journal of Medical Genetics
[2005] Segmental and Full Paternal Isodisomy for Chromosome 14 in Three Patients: Narrowing the Critical Region and Implication for the Clinical Features
Masayo Kagami, Gen Nishimura, Torayuki Okuyama, Michiko Hayashidani, Toshio Takeuchi, Shinya Tanaka, Fumitoshi Ishino,Kenji Kurosawa, Tsutomu Ogata
in American Journal of Medical Genetics
[2005] Characterization of Chromosome 14 Abnormalities by Interphase In Situ Hybridization and Comparative Genomic Hybridization in 124 Meningiomas
María Dolores Tabernero, Ana Belén Espinosa, Angel Maíllo, José María Sayagués, María del Carmen Alguero, Eva Lumbreras, Pedro Díaz, Jesús María GonÇalves, Ignacio Onzain,Marta Merino, Francisco Morales, Alberto Orfao.
in Anatomic Pathology
[2005] Distal trisomy 10q/partial monosomy 14q: an unusual clinical picture
Bregant L, Gersak K, Veble A
in Genet Couns.
[2005] Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes
Kamnasaran D, Chen CP, Devriendt K, Mehta L, Cox DW
in Genomics.
[2004] Concerning ‘‘14q(22) Deletion in a Familial Case of Anophthalmia With Polydactyly’’
Gopalrao V.N. Velagaleti
in American Journal of Medical Genetics
[2004] Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosis
Hou JW
in Chang Gung Med J.
[2004] Mosaic monosomy 14: clinical features and recognizable facies
V. McConnell, R. Derham, D. McManus and P.J. Morrison
in Clinical Dysmorphology
[2004] De novo paracentric inversion 14q13q24.1 in a patient with severe involuntary movements, epilepsy, oligodontia and dysmorphic features
Peippo M, Tengstrom C, Arvio M, Valanne L, Oksanen V, Kaakkola S, Ignatius J
in Genet Couns.
[2004] Interstitial deletion of chromosome 14q in a Taiwanese infant with microcephaly
Su PH, Chen SJ, Lee IC, Wang KL, Chen JY, Hung HM, Lee CF.
in J Formos Med Assoc.
[2004] Molecular characterisation of a 3.5 Mb 14q deletion in a child with several phenotypic anomalies
E Petek, B Plecko-Startinig, C Windpassinger, H Egger, K Wagner and P M Kroisel
in J. Med. Genet
[2004] Trisomy 14 Mosaicism: A Case Report and Review of the Literature
M. Fran Lynch, Caraciolo J. Fernandes, Lisa G. Shaffer, Lorraine Potocki.
in Journal of Perinatology
[2004] Ring chromosome 14 syndrome: a case report
Li R, Zhao ZY, Sun LY, Zheng X
in Zhonghua Er Ke Za Zhi.
[2003] 14q(22) Deletion in a Familial Case of Anophthalmia With Polydactyly (Clinical Report)
M.E. Ahmad, Rima Dada, Tanuj Dada, Kiran Kucheria
in American Journal of Medical Genetics
[2003] Stable Dicentric Duplication-Deficiency Chromosome 14 Resulting from Crossing-Over Within a Maternal Paracentric Inversion
Genevie`ve Lefort, Patricia Blanchet,Nabia Belgrade,Franc¸ois Rivier, Anne Marie Chaze, Pierre Sarda, Jacques Demaille, and Franck Pellestor.
in American Journal of Medical Genetics
[2003] Ring chromosome 14 with localization-related epilepsy: three cases
Masafumi Morimoto, Tomohiro Usuku, Masayuki Tanaka, Osamu Otabe, Akira Nishimura, Masaharu Ochi, †Yoshihiro Takeuchi, Hiroshi Yoshioka, and Tohru Sugimoto
in Epilepsia
[2003] A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3
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.
[2002] Further Delineation of the Chromosome 14q Terminal Deletion Syndrome
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
[2002] Subtelomeric FISH Uncovers Trisomy 14q32: Lessons for Imprinted Regions, Cryptic Rearrangements and Variant Acrocentric Short Arms
V. Reid Sutton, Karen J. Coveler, Seema R. Lalani, Catherine D. Kashork, Lisa G. Shaffer.
in American Journal of Medical Genetics
[2002] A case of segmental paternal isodisomy of chromosome 14
Karen J. Coveler · Sam P. Yang · V. Reid Sutton · Jay M. Milstein · Yuan-Qing Wu · Cami Knox-Du Bois · Linda S. Beischel · John P. Johnson · Lisa G. Shaffer
in Hum Genet
[2000] Search for imprinted regions on chromosome 14:omparison on maternal and paternal UPD cases with cases of chromosome 14 deletions
V. Reid Sutton, Lisa G. Shaffer.
in American Journal of medical genetics
[2000] An adult patient with a distal interstitial 14q deletion: clinical report and literature review
Spruijt, Van Der Blij
in Genet Couns
[2000] 14q terminal deletion: prenatal diagnosis in a child with severe congenital anomalies
Mertens DJ, De Die-Smulders CE, Kampschoer PH, Offermans JP, Engelen JJ, Hamers AJ, Lammens M, Schrander-Stumpel CT
in Genet. Couns
[2000] Maternal uniparental heterodisomy of chromosome14: chromosomal mechanism and clinical follow up
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
[2000] A case of ring 14 chromosome with ocular manifestation
Hisatomi, Kira
in Nippon Ganka Gakkai
[2000] A case of ring 14 chromosome with ocular manifestations
Hisatomi T, Kira R, Sakamoto T, Inomata H.
in Nippon Ganka Gakkai Zasshi.
[2000] Abnormal Myelination in a Patient With Deletion 14q11.2q13.1
Gian P. Ramelli, Karl O. Lo¨vblad, Hans Hirsiger, Hans Moser.
in PEDIATRIC NEUROLOGY
[1999] Ring chromosome 14 complicated with partial seizures and hypoplastic corpus callosum
Jiro Ono, Kazuhiko Nishiike, Katsumi Imai, Kazumasa Otani, and Shintaro Okada
in Pediatric Neurology
[1999] Prenatal diagnosis of a mosaic extra structurally abnormal chromosome by spectral karyotyping
Ning Y
in PRENATAL DIAGNOSIS
[1998] Submicroscopic deletion in 14q32.3 through a de novo tandem translocation between 14q and 21p
Meschede, Exeler
in Am J Med Genet
[1998] Ring chromosome 14: report of a new case
Campos, Casado
in An Esp Pediatr
[1998] Microcephaly with chorioretinal degeneration
Atchaneeyasakul LO
in Ophthalmic Genet
[1997] Another case of maternal uniparental disomy chromosome 14 syndrome
Splitt, Goodship
in Am J Med Genet
[1997] Prenatal diagnosis of ring chromosome 14 after intracytoplasmic sperm injection
Jean, Rival
in Fertil Steril
[1997] Delineation of 14q32.3 deletion syndrome
A P Ortigas, Constance K Stein, Laura L Thomson, J J Hoo
in Journal of Medical Genetics
[1995] Molecular analysis redefines three human chromosome 14 deletion
Wintle, Costa
in Hum Genet
[1994] A linkage map of human chromosome 14, including 13 gene loci
Cox, Billingsley
in Genomics
[1993] Epilepsy in a child with ring chromosome 14
Midro, Zadrozna
in Neurol Neurochir Pol
[1992] Childs with multgiple congenital anomalies and mosaicism 46,XX/46,Xxdel(14)(q32,2)
Miller, Jayakar
in Am J Med Genet
[1992] A further case of terminal (14)(q32.2) in a child with mild dysmorphic features
Wang, Allanson
in Ann Genet
[1992] Ring 14 chromosome with complex partial seizures: a case report
Shirasaka, Ito
in Brain Dev
[1992] Ring chromosome 14
Rudenskaia
in Pediatriia
[1992] The ring chromosome 14 syndrome
Kristensen, Wieg
in Ugeskr Laeger
[1991] Ring chromosome 14 Syndrome: report of two cases including extended evaluation of a previously reported patient and review
Zelante, Torricelli
in Ann Genet
[1991] Report of the commitee on the genetic constitution of chromosome 14
Cox, Nakamura
in Cytogenet Cell Genet
[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
Benger, Teshima
in Genomics
[1990] Transmission of ring 14 chromosome from mother to two sons
Matalon, Supple
in Am J Med Genet
[1990] Syndrome r14 sans dysmorphie majeure
Blois, Caille
in Ann Genet
[1990] Physical mapping of probes within 14q32, a subteloremic region showing high recombination frequency
Hofker, Smith
in Genomics
[1990] Terminal deletion (14)(q32.3): a new case
Telford, Thomson
in Med Genet
[1989] Epilepsy in ring chromosome 14 syndrome
Duarte, Lison
in Arq Neuropsiquiatr
[1989] Unusual cytogenetic mosaicism involving chromosome 14 abnormalities in a child with an MR/MCA syndrome and abnormal pigmentation
Cantù, Thomas
in Clin Genet
[1989] Molecular characterization of a ring chromosome 14 showing that the PI locus is Centrometric to the D14S1 and IGH loci
Keyeux, Gilgenkrantz
in Hum Genet
[1989] A terminal deletion (14) (q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation
Yen, Podruch
in J Med Genet
[1988] Retinal/macular pigmentation in conjunction with ring 14 chromosome
Howard, Clark
in Hum Genet
[1987] Ring chromosome 14 without deletion
Angelova, Mitreva
in Acta Pediatr Hung
[1987] A primary genetic linkage map of distal chromosome 14q
Nakamura, Leppert
in Cytogent Cell Genet
[1987] Does ring syndrome exist? An analysis of 207 case reports on patients with a ring autosome
Kosztolanyi
in Hum Genet
[1986] Clinical findings in an arab boy with ring (14)(mos 46,XY,r(14)/45,XY,-14)
Portoian-Shuhaiber
in Ann Genet
[1986] Ocular findings in a patient with deletion short arm chromosome 5 (cri-du-chat) and ring 14 chromosome
Clark, Howard
in Trans Ophthalmol Soc UK
[1985] 2 new cases of ring chromosome 14
Caille, Rethore
in Ann Pediatr
[1985] De novo reciprocal translocation t(6;14)(q27;q13.3) in a child with infantile spasms
Hattori, H
in Epilepsia
[1985] Distal monosomy 14 not associated with ring formation
Hreidarsson, Stamberg
in J Med Genet
[1984] Ring chromosome 14 and immunoglobulin locus
Krawczun, Melink
in Am J Med Genet
[1984] Chromosome 14 en anneau une observation de r(14) en mosaique le phènotype r(14)
Rethoré, Caille
in Ann Genet
[1984] Chromosome 14 en anneau une observation de r(14) homogène
Raolu, Razavi
in Ann Genet
[1984] Ring-14 and trisomyq in the same child
Pangalos, Velissariou
in Ann Genet
[1984] The r(14) syndrome. Three new observations
Gilgenkrantz, Morali
in Ann Genet
[1983] Anomalies oculaires du phénotype 46,XY,r(14)
Guillot, Dufier
in Arch Fr Pediatr
[1983] Ring 14 syndrome with decreased bone mineral content in two pubertal Girls
Ieshima, Takeshita
in Hum Genet
[1983] Ring chromosome 14. A distinct clinical entity
Fryns, Kubien
in J Genet Hum
[1983] Analysis of a break in chromosome 14 mapping to the region of the immunoglobulin heavy chain locus
Linsley, Bech-Hansen
in Proc Natl Acad Sci USA
[1982] Ring chromosome 14 syndrome
Fryns, Petit
in Ann Genet
[1981] Ring 14 chromosome: association with seizures
Lippe, Sparkes
in Am J Med Genet
[1981] Infant male with ring chromosome 14
Triolo, Serra
in Ann Genet
[1981] Inheritance of a ring 14 chromosome
S Bowser Riley, K E Buckton, S G Ratcliffe, and J Syme
in J Med Genet
[1981] Ring chromosome 14: a distinct clinical entity
Rina Schmidt, Lydia Eviatar, Harold M Nitowsky, Martha Wong, and Sylvia Miranda
in J Med Genet
[1980] Ring chromosome 14 in a mentally retarded girl
Iselius, Ritzen
in Acta Pediatr Scand
[1980] A Ring 14 chromosome with deleted short arm
Amarose, Huttenlocher
in Hum Genet
[1980] Ring 14 chromosome and choreoathetosis
McBride, Oppenheimer
in Neurology
[1979] Ring chromosome 14 identified by banding thecniques
Vekemans, Watters
in Am J Med Genet
[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
Abe, Misawa
in Ann Genet
[1978] Cromosoma 14 ad anello
Torricelli, Giovannucci
in Nuove sindromi cromosomiche patologia autosomica soc Ed Universo
[1977] Extended evaluation of previously reported twins with a ring 14 chromosome
Sparkes, Klisak
in Ann Genet
[1977] Ring chromosome 14 in monozygotic twins
Jalbert, Sele
in Ann Genet
[1977] Multiple congenital malformations in a child with ring 14 chromosome
Dzarlieva
in Med Fak Skopje
