A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum (English)
- New search for: Pineda‐Alvarez, Daniel E.
- New search for: Solomon, Benjamin D.
- New search for: Roessler, Erich
- New search for: Balog, Joan Z.
- New search for: Hadley, Donald W.
- New search for: Zein, Wadih M.
- New search for: Hadsall, Casey K.
- New search for: Brooks, Brian P.
- New search for: Muenke, Maximilian
- New search for: Pineda‐Alvarez, Daniel E.
- New search for: Solomon, Benjamin D.
- New search for: Roessler, Erich
- New search for: Balog, Joan Z.
- New search for: Hadley, Donald W.
- New search for: Zein, Wadih M.
- New search for: Hadsall, Casey K.
- New search for: Brooks, Brian P.
- New search for: Muenke, Maximilian
In:
American Journal of Medical Genetics Part A
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155
, 11
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2713-2720
;
2011
- Article (Journal) / Electronic Resource
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Title:A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum
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Contributors:Pineda‐Alvarez, Daniel E. ( author ) / Solomon, Benjamin D. ( author ) / Roessler, Erich ( author ) / Balog, Joan Z. ( author ) / Hadley, Donald W. ( author ) / Zein, Wadih M. ( author ) / Hadsall, Casey K. ( author ) / Brooks, Brian P. ( author ) / Muenke, Maximilian ( author )
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Published in:American Journal of Medical Genetics Part A ; 155, 11 ; 2713-2720
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Publisher:
- New search for: Wiley Subscription Services, Inc., A Wiley Company
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Publication date:2011-11-01
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Size:8 pages
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
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Keywords:FGF8 , coloboma , ocular , ZIC2 , microcornea , microphthalmia , strabismus , SHH , SIX3 , holoprosencephaly
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Source:
Table of contents – Volume 155, Issue 11
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 2609
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Whole‐exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D‐2‐hydroxyglutaric aciduria (MC‐HGA)Vissers, Lisenka E.L.M. / Fano, Virginia / Martinelli, Diego / Campos‐Xavier, Belinda / Barbuti, Domenico / Cho, Tae‐Joon / Dursun, Ahmet / Kim, Ok Hwa / Lee, Sun Hee / Timpani, Giuseppina et al. | 2011
- 2617
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Néstor–Guillermo progeria syndrome: A novel premature aging condition with early onset and chronic development caused by BANF1 mutationsCabanillas, Rubén / Cadiñanos, Juan / Villameytide, José A.F. / Pérez, Mercedes / Longo, Jesús / Richard, José M. / Álvarez, Rebeca / Durán, Noelia S. / Illán, Rafael / González, Daniel J. et al. | 2011
- 2626
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Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosisLakovschek, Ioana Claudia / Streubel, Berthold / Ulm, Barbara et al. | 2011
- 2634
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Birth history, physical characteristics, and medical conditions in long‐term survivors with full trisomy 13Bruns, Deborah et al. | 2011
- 2641
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The impact of cardiac surgery in patients with trisomy 18 and trisomy 13 in JapanMaeda, Jun / Yamagishi, Hiroyuki / Furutani, Yoshiyuki / Kamisago, Mitsuhiro / Waragai, Tadashi / Oana, Shinji / Kajino, Hiroki / Matsuura, Hiroyuki / Mori, Katsuhiko / Matsuoka, Rumiko et al. | 2011
- 2647
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Phenotypic heterogeneity in Woodhouse–Sakati syndrome: Two new families with a mutation in the C2orf37 geneBen‐Omran, Tawfeg / Ali, Rehab / Almureikhi, Mariam / Alameer, Seham / Al‐Saffar, Muna / Walsh, Christopher A. / Felie, Jillian M. / Teebi, Ahmad et al. | 2011
- 2654
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Craniofacial morphology in patients with hypophosphatemic rickets: A cephalometric study focusing on differences between bone of cartilaginous and intramembranous originGjørup, Hans / Kjær, Inger / Sonnesen, Liselotte / Haubek, Dorte / Beck‐Nielsen, Signe Sparre / Hintze, Hanne / Poulsen, Sven et al. | 2011
- 2661
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Ectopia lentis as the presenting and primary feature in Marfan syndromeZadeh, Neda / Bernstein, Jonathan A. / Niemi, Anna Kaisa / Dugan, Sarah / Kwan, Andrea / Liang, David / Hyland, James C. / Hoyme, H. Eugene / Hudgins, Louanne / Manning, Melanie A. et al. | 2011
- 2669
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Revisit of multiple epiphyseal dysplasia: Ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genesKim, Ok‐Hwa / Park, Hyunwoong / Seong, Moon‐Woo / Cho, Tae‐Joon / Nishimura, Gen / Superti‐Furga, Andrea / Unger, Sheila / Ikegawa, Shiro / Choi, In Ho / Song, Hae‐Ryong et al. | 2011
- 2681
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Common structural features characterize interstitial intrachromosomal Xp and 18q triplicationsGiorda, Roberto / Beri, Silvana / Bonaglia, M. Clara / Spaccini, Luigina / Scelsa, Barbara / Manolakos, Emmanouil / Mina, Erika Della / Ciccone, Roberto / Zuffardi, Orsetta et al. | 2011
- 2688
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Neurodevelopmental outcomes in children with Down syndrome and congenital heart defectsVisootsak, Jeannie / Mahle, William T. / Kirshbom, Paul M. / Huddleston, Lillie / Caron‐Besch, Marcia / Ransom, Amy / Sherman, Stephanie L. et al. | 2011
- 2692
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Chromosomal anomalies in the etiology of anorectal malformations: A reviewMarcelis, Carlo / de Blaauw, Ivo / Brunner, Han et al. | 2011
- 2705
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Correlation of intercentromeric distance, mosaicism, and sexual phenotype: Molecular localization of breakpoints in isodicentric Y chromosomesBergeron, Mélanie Beaulieu / Brochu, Pierre / Lemyre, Emmanuelle / Lemieux, Nicole et al. | 2011
- 2713
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A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrumPineda‐Alvarez, Daniel E. / Solomon, Benjamin D. / Roessler, Erich / Balog, Joan Z. / Hadley, Donald W. / Zein, Wadih M. / Hadsall, Casey K. / Brooks, Brian P. / Muenke, Maximilian et al. | 2011
- 2721
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Qualitative assessment of study materials and communication strategies used in studies that include DNA collectionJenkins, Mary M. / Reed‐Gross, Erika / Barfield, Wanda D. / Prue, Christine E. / Gallagher, Margaret L. / Rasmussen, Sonja A. / Honein, Margaret A. et al. | 2011
- 2732
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Adrenal function in Smith–Lemli–Opitz syndromeBianconi, Simona E. / Conley, Sandra K. / Keil, Meg F. / Sinaii, Ninet / Rother, Kristina I. / Porter, Forbes D. / Stratakis, Constantine A. et al. | 2011
- 2739
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MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletionsStevens, Servi J.C. / van Ravenswaaij‐Arts, Conny M.A. / Janssen, Jannie W.H. / Klein Wassink‐Ruiter, Jolien S. / van Essen, Anthonie J. / Dijkhuizen, Trijnie / van Rheenen, Jeroen / Heuts‐Vijgen, Regina / Stegmann, Alexander P.A. / Smeets, Eric E.J.G.L. et al. | 2011
- 2746
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Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndromeProntera, Paolo / Garelli, Emanuela / Isidori, Ilenia / Mencarelli, Amedea / Carando, Adriana / Silengo, Margherita Cirillo / Donti, Emilio et al. | 2011
- 2750
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Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post‐mortem genetic analysis of tissue specimensCiotti, Paola / Mandich, Paola / Bellone, Emilia / Ceppa, Paola / Bovio, Marta / Ameri, Pietro / Torre, Giancarlo / Fiocca, Roberto / Murialdo, Giovanni et al. | 2011
- 2754
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Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridizationFreitas, Érika L. / Gribble, Susan M. / Simioni, Milena / Vieira, Társis P. / Silva‐Grecco, Roseane L. / Balarin, Marly A. S. / Prigmore, Elena / Krepischi‐Santos, Ana C. / Rosenberg, Carla / Szuhai, Karoly et al. | 2011
- 2762
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Primary lymphedema with coarctation of the aorta: Possible new syndrome or variant of Irons–Bianchi syndrome?Ferguson, John S. / Gunatheesan, Shymalar / Brice, Glen / Hastings, Rob / Newbury‐Ecob, Ruth / Mortimer, Peter S. / Mansour, Sahar et al. | 2011
- 2766
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Identical twin sisters with Rubinstein–Taybi syndrome associated with Chiari malformations and syrinxParsley, Lea / Bellus, Gary / Handler, Michael / Tsai, Anne Chun‐Hui et al. | 2011
- 2771
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Christianson syndrome in a patient with an interstitial Xq26.3 deletionTzschach, Andreas / Ullmann, Reinhard / Ahmed, Alischo / Martin, Thomas / Weber, Georg / Decker‐Schwering, Oliver / Pauly, Fernand / Shamdeen, Mohammed Ghiath / Reith, Wolfgang / Oehl‐Jaschkowitz, Barbara et al. | 2011
- 2775
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Deletion and duplication of 11p13‐11p14: Reciprocal aberrations derived from a paternal insertionDolan, Michelle / Berry, Susan A. / Rubin, Karol R. / Hirsch, Betsy et al. | 2011
- 2784
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Tibial hemimelia in Langer–Giedion syndrome with 8q23.1‐q24.12 interstitial deletionCarvalho, Daniel Rocha / Santos, Savana Camilla Lima / Oliveira, Maria Dulce Valverde / Speck‐Martins, Carlos Eduardo et al. | 2011
- 2788
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Angelman syndrome and prenatally diagnosed Prader–Willi syndrome in first cousinsRanganath, Prajnya / Agarwal, Meenal / Phadke, Shubha R. et al. | 2011
- 2791
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Persistence of a monosomic cell line in a fetus with mosaic trisomy 8Turchetti, Daniela / Pompilii, Eva / Magrini, Elisabetta / Bonasoni, Maria Paola / Pittalis, Maria Carla / Segata, Maria / Pession, Annalisa / Santini, Donatella / Pilu, Gianluigi / Seri, Marco et al. | 2011
- 2795
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A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental featuresLiao, Jun / DeWard, Stephanie J. / Madan‐Khetarpal, Suneeta / Surti, Urvashi / Hu, Jie et al. | 2011
- 2801
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A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD)Ben‐Neriah, Ziva / Michaelson‐Cohen, Rachel / Inbar‐Feigenberg, Michal / Nadjari, Michael / Zeligson, Sharon / Shaag, Avraham / Zenvirt, Shamir / Elpeleg, Orly / Levy‐Lahad, Ephrat et al. | 2011
- 2807
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Transmitted deletions of medial 5p and learning difficulties; Does the cadherin cluster only become penetrant when flanking genes are deleted?Barber, John C.K. / Huang, Shuwen / Bateman, Mark S. / Collins, Amanda L. et al. | 2011
- 2816
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Congenital diaphragmatic hernia in Smith–Magenis syndrome: A possible locus at chromosome 17p11.2Sanford, E.F. / Bermudez‐Wagner, K. / Jeng, L.J.B. / Rauen, K.A. / Slavotinek, Anne M. et al. | 2011
- 2821
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Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutationsSpiegel, Ronen / Dobbie, Angus / Hartman, Corina / de Vries, Liat / Ellard, Sian / Shalev, Stavit A. et al. | 2011
- 2826
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Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sistersHarrison, Victoria / Connell, Lyndsey / Hayesmoore, Jesse / McParland, Joanna / Pike, Michael G. / Blair, Edward et al. | 2011
- 2832
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Progressive leukoencephalopathy with intracranial calcification, congenital deafness, and developmental deteriorationKuki, Ichiro / Kawawaki, Hisashi / Okazaki, Shin / Kimura‐Ohba, Shihoko / Nakano, Tomoaki / Fukushima, Hiroko / Inoue, Takeshi / Tomiwa, Kiyotaka / Itoh, Masayuki et al. | 2011
- 2838
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New case of Primrose syndrome with mild intellectual disabilityPosmyk, Renata / Leśniewicz, Ryszard / Chorąży, Monika / Wołczyński, Sławomir et al. | 2011
- 2841
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Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non‐acrocentric satellited chromosomesSarri, Catherine / Douzgou, Sofia / Gyftodimou, Yolanda / Tümer, Zeynep / Ravn, Kirstine / Pasparaki, Angela / Sarafidou, Theologia / Kontos, Harry / Kokotas, Haris / Karadima, Georgia et al. | 2011
- 2855
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Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: Evidence for a spectrum of ectopic calcification disorders?Vanakker, Olivier M. / Leroy, Bart P. / Schurgers, Leon J. / Vermeer, Cees / Coucke, Paul J. / De Paepe, Anne et al. | 2011
- 2860
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Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?Unger, Sheila / Lausch, Ekkehart / Stanzial, Franco / Gillessen‐Kaesbach, Gabriele / Stefanova, Irina / Di Stefano, Cristina Maria / Bertini, Enrico / Dionisi‐Vici, Carlo / Nilius, Bernd / Zabel, Bernhard et al. | 2011
- 2865
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Severe osteogenesis imperfecta caused by a small in‐frame deletion in CRTAPAmor, I.M. Ben / Rauch, F. / Gruenwald, K. / Weis, M. / Eyre, D.R. / Roughley, P. / Glorieux, F.H. / Morello, R. et al. | 2011
- 2871
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Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletionGallant, Natalie M. / Baldwin, Erin / Salamon, Noriko / Dipple, Katrina M. / Quintero‐Rivera, Fabiola et al. | 2011
- 2879
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De novo 5q14.3 translocation 121.5‐kb upstream of MEF2C in a patient with severe intellectual disability and early‐onset epileptic encephalopathySaitsu, Hirotomo / Igarashi, Noboru / Kato, Mitsuhiro / Okada, Ippei / Kosho, Tomoki / Shimokawa, Osamu / Sasaki, Yuki / Nishiyama, Kiyomi / Tsurusaki, Yoshinori / Doi, Hiroshi et al. | 2011
- 2885
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A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorderAbdel‐Salam, Ghada M.H. / Miyake, Noriko / Eid, Maha M. / Abdel‐Hamid, Mohamed S. / Hassan, Nihal A. / Eid, Ola M. / Effat, Laila K. / El‐Badry, Tarek H. / El‐Kamah, Ghada Y. / El‐Darouti, Mohamed et al. | 2011
- 2897
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Genetic contribution of bicuspid aortic valve morphologyFernández, Borja / Durán, Ana C. / Fernández, M. Carmen / Arqué, Josep M. / Such, Miguel / Sans‐Coma, Valentín et al. | 2011
- 2899
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Genetic contribution to bicuspid aortic valve morphologyHinton, Robert B. et al. | 2011
- 2901
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ZIC2 mutations are seen in holoprosencephaly and not partial rhombencephalosynapsisGuleria, Saurabh et al. | 2011
- 2902
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Rhombencephalosynapsis is a malformation deserving of further studyRamocki, Melissa / Scaglia, Fernando / Jones, Jeremy / Clark, Gary et al. | 2011
- 2903
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Corrigendum to “A New Microdeletion Syndrome of 5q31.3 Characterized by Severe Developmental Delays, Distinctive Facial Features, and Delayed Myelination”Shimojima, Keiko / Isidor, Bertrand / Le Caignec, Cédric / Kondo, Akiko / Sakata, Shinji / Ohno, Kousaku / Yamamoto, Toshiyuki et al. | 2011
- C1
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American Journal of Medical Genetics Part A: Volume 155, Number 11, November 2011| 2011
- fm i
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Table of Contents, Volume 155, Number 11, November 2011| 2011
- ix
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NIH to include children's genomic data in electronic medical records| 2011
- x
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Legal battle over BRCA1 and BRCA2 patents continues| 2011
- xii
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In this issue| 2011