Works matching IS 15524825 AND DT 2014 AND VI 164A AND IP 12

Results: 42

Nine children over the age of one year with full trisomy 13: A case series describing medical conditions.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 2987, doi. 10.1002/ajmg.a.36689
By:
- Bruns, Deborah A.;
- Campbell, Emily
Publication type:
Article
In this issue.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. x, doi. 10.1002/ajmg.a.36870
Publication type:
Article
Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3027, doi. 10.1002/ajmg.a.36751
By:
- ThevENon, JuliEN;
- Monnier, Nicole;
- Callier, Patrick;
- Dieterich, Klaus;
- Francoise, Michel;
- Montgomery, Tara;
- Kjaergaard, Susanne;
- Neas, Katherine;
- Dixon, Joanne;
- Dahm, Thomas Lee;
- Huet, Frédéric;
- Ragon, ClémENce;
- Mosca ‐ Boidron, Anne ‐ Laure;
- Marle, Nathalie;
- Duplomb, LaurENce;
- Aubriot ‐ Lorton, Marie ‐ Hélène;
- Mugneret, Francine;
- Vokes, Steve A.;
- Tucker, Haley W.;
- Lunardi, Joël
Publication type:
Article
A complex Xp11.22 deletion in a patient with syndromic autism: Exploration of FAM120C as a positional candidate gene for autism.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3035, doi. 10.1002/ajmg.a.36752
By:
- De Wolf, Veerle;
- Crepel, An;
- Schuit, Frans;
- van Lommel, LeENtje;
- Ceulemans, BertEN;
- Steyaert, Jean;
- SeuntjENs, Eve;
- Peeters, Hilde;
- DevriENdt, KoEN
Publication type:
Article
Pathological changes in cardiac muscle and cerebellar cortex in Vici syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3203, doi. 10.1002/ajmg.a.36753
By:
- Miyata, Rie;
- Hayashi, Masaharu;
- Itoh, Eisaku
Publication type:
Article
Update from the 2013 international neurofibromatosis conference.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 2969, doi. 10.1002/ajmg.a.36754
By:
- Plotkin, Scott R.;
- Albers, Anne C.;
- Babovic ‐ Vuksanovic, Dusica;
- Blakeley, Jaishri O.;
- Breakefield, Xandra O.;
- Dunn, Courtney M.;
- Evans, D. Gareth;
- Fisher, Michael J.;
- Friedman, Jan M.;
- Giovannini, Marco;
- Gutmann, David H.;
- Kalamarides, Michel;
- McClatchey, Andrea I.;
- MessiaEN, Ludwine;
- Morrison, HelEN;
- Parkinson, David B.;
- Stemmer ‐ Rachamimov, Anat O.;
- Van Raamsdonk, Catherine D.;
- Riccardi, VincENt M.;
- Rosser, TENa
Publication type:
Article
Cognitive-motor profile, clinical characteristics and diagnosis of CHARGE syndrome: An Italian experience.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3042, doi. 10.1002/ajmg.a.36758
By:
- Santoro, Lucia;
- FiccadENti, Anna;
- Zallocco, Federica;
- Baldo, Giada Del;
- Piraccini, Francesca;
- Gesuita, Rosaria;
- Ceccarani, Patrizia;
- Gabrielli, Orazio
Publication type:
Article
Mosaic deletion of EXOC6B: Further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3088, doi. 10.1002/ajmg.a.36770
By:
- Evers, Christina;
- Maas, Bianca;
- Koch, Karin A.;
- Jauch, Anna;
- JanssEN, Johannes W.G.;
- Sutter, Christian;
- Parker, Michael J.;
- Hinderhofer, Katrin;
- Moog, Ute
Publication type:
Article
Deletion of AFG3L2 associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3209, doi. 10.1002/ajmg.a.36771
By:
- Myers, Kenneth A.;
- Warman Chardon, Jodi;
- Huang, Lijia;
- Boycott, Kym M.
Publication type:
Article
First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3170, doi. 10.1002/ajmg.a.36772
By:
- Ehmke, Nadja;
- Parvaneh, Nima;
- Krawitz, Peter;
- Ashrafi, Mahmoud ‐ Reza;
- Karimi, Parviz;
- Mehdizadeh, Mehrzad;
- Krüger, Ulrike;
- Hecht, JochEN;
- Mundlos, Stefan;
- Robinson, Peter N.
Publication type:
Article
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3176, doi. 10.1002/ajmg.a.36774
By:
- BessENyei, Beáta;
- Tihanyi, Mariann;
- Hartwig, Marianna;
- Szakszon, Katalin;
- Oláh, Éva
Publication type:
Article
Handing the pen to the patient: Reflective writing for children and families affected by genetic conditions.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3021, doi. 10.1002/ajmg.a.36776
By:
- Murali, Chaya;
- Fernbach, Susan D.;
- Potocki, Lorraine
Publication type:
Article
Inverted duplication with deletion: First interstitial case suggesting a novel undescribed mechanism of formation.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3180, doi. 10.1002/ajmg.a.36777
By:
- Milosevic, J.;
- El Khattabi, L.;
- Roubergue, A.;
- CoussemENt, A.;
- Doummar, D.;
- Cuisset, L.;
- Le Tessier, D.;
- Flageul, B.;
- Viot, G.;
- Lebbar, A.;
- Dupont, J.M.
Publication type:
Article
Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: Case report and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3187, doi. 10.1002/ajmg.a.36778
By:
- Kehinde, Folasade I.;
- Anderson, Carol E.;
- McGowan, Jane E.;
- Jethva, ReENa N.;
- Wahab, Mohammed A.;
- Glick, Adina R.;
- Sterner, Mark R.;
- Pascasio, Judy M.;
- Punnett, Hope H.;
- Liu, Jinglan
Publication type:
Article
Early manifestations of BPAN in a pediatric patient.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3095, doi. 10.1002/ajmg.a.36779
By:
- Okamoto, Nobuhiko;
- Ikeda, Tae;
- Hasegawa, Tatsuji;
- Yamamoto, Yuto;
- Kawato, Kazumi;
- Komoto, Tomohiro;
- Imoto, Issei
Publication type:
Article
Higher prevalence of immune deficiency syndrome found in infants.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. vii, doi. 10.1002/ajmg.a.36868
By:
- Levenson, Deborah
Publication type:
Article
Noninvasive prenatal testing strategy detects maple syrup urine disease in a fetus.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. viii, doi. 10.1002/ajmg.a.36869
Publication type:
Article
Novel interstitial deletion of 10q24.3-25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3132, doi. 10.1002/ajmg.a.36740
By:
- Peltekova, Iskra T.;
- Hurteau ‐ Millar, Julie;
- Armour, Christine M.
Publication type:
Article
Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3137, doi. 10.1002/ajmg.a.36741
By:
- Prontera, Paolo;
- Ottaviani, ValENtina;
- Toccaceli, Daniela;
- Rogaia, Daniela;
- Ardisia, CarmEN;
- Romani, Rita;
- Stangoni, Gabriela;
- Pierini, Angiolo;
- Donti, Emilio
Publication type:
Article
Periventricular nodular heterotopia in Smith-Magenis syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3142, doi. 10.1002/ajmg.a.36742
By:
- Capra, Valeria;
- Biancheri, Roberta;
- Morana, Giovanni;
- Striano, Pasquale;
- Novara, Francesca;
- Ferrero, Giovanni Battista;
- Boeri, Luca;
- Celle, Maria ElENa;
- Mancardi, Maria Margherita;
- Zuffardi, Orsetta;
- Parrini, ElENa;
- Guerrini, RENzo
Publication type:
Article
Severe epilepsy in an adult with partial trisomy 18q.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3148, doi. 10.1002/ajmg.a.36743
By:
- del Gaudio, Luigi;
- Striano, Salvatore;
- Coppola, Antonietta
Publication type:
Article
Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3154, doi. 10.1002/ajmg.a.36746
By:
- Alfei, Enrico;
- Raviglione, Federico;
- Franceschetti, Silvana;
- D'Arrigo, Stefano;
- Milani, Donatella;
- Selicorni, Angelo;
- Riva, Daria;
- Zuffardi, Orsetta;
- Pantaleoni, Chiara;
- Binelli, Simona
Publication type:
Article
CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3003, doi. 10.1002/ajmg.a.36747
By:
- CorstEN ‐ JanssEN, Nicole;
- du Marchie Sarvaas, Gideon J.;
- KerstjENs ‐ Frederikse, Wilhelmina S.;
- Hoefsloot, Lies H.;
- van Beynum, Ingrid M.;
- Kapusta, Livia;
- van RavENswaaij ‐ Arts, Conny M.A.
Publication type:
Article
Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3120, doi. 10.1002/ajmg.a.36697
By:
- Baldassarre, Giuseppina;
- Mussa, Alessandro;
- Banaudi, ElENa;
- Rossi, Cesare;
- Tartaglia, Marco;
- SilENgo, Margherita;
- Ferrero, Giovanni Battista
Publication type:
Article
Identification of a novel missense mutation in the WFS1 gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all-frequencies.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3052, doi. 10.1002/ajmg.a.36760
By:
- Bai, Xiaohui;
- Lv, Huaiqing;
- Zhang, FENgguo;
- Liu, Jinzhi;
- Fan, Zhaomin;
- Xu, Lei;
- Han, Yuhang;
- Chai, RENjie;
- Li, JianfENg;
- Wang, Haibo
Publication type:
Article
3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3061, doi. 10.1002/ajmg.a.36761
By:
- Dikow, Nicola;
- Maas, Bianca;
- Karch, Stephanie;
- Granzow, Martin;
- JanssEN, Johannes W.G.;
- Jauch, Anna;
- Hinderhofer, Katrin;
- Sutter, Christian;
- Schubert ‐ Bast, Susanne;
- Anderlid, Britt Marie;
- Dallapiccola, Bruno;
- Van der Aa, Nathalie;
- Moog, Ute
Publication type:
Article
Genetic knowledge and attitudes of parents of children with congenital heart defects.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3069, doi. 10.1002/ajmg.a.36763
By:
- Fitzgerald ‐ Butt, Sara M.;
- Klima, JENnifer;
- Kelleher, Kelly;
- Chisolm, DeENa;
- McBride, Kim L.
Publication type:
Article
A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf-Hirschhorn syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3213, doi. 10.1002/ajmg.a.36765
By:
- Wieland, Ilse;
- Schanze, Denny;
- Schanze, Ina;
- Volleth, Marianne;
- Muschke, Petra;
- Zenker, Martin
Publication type:
Article
HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3162, doi. 10.1002/ajmg.a.36766
By:
- Reuter, Miriam S.;
- Sass, Jörn Oliver;
- Leis, Thomas;
- Köhler, Julia;
- Mayr, Johannes A.;
- Feichtinger, RENé G.;
- Rauh, Manfred;
- Schanze, Ina;
- Bähr, Luzy;
- Trollmann, Regina;
- Uebe, SteffEN;
- Ekici, Arif B.;
- Reis, André
Publication type:
Article
Duodenal atresia in 17q12 microdeletion including HNF1B: A new associated malformation in this syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3076, doi. 10.1002/ajmg.a.36767
By:
- Quintero ‐ Rivera, Fabiola;
- Woo, JENnifer S.;
- Bomberg, Eric M.;
- Wallace, W. Dean;
- Peredo, Jane;
- Dipple, Katrina M.
Publication type:
Article
Partial AFF2 microduplication in a patient with auditory processing disorder, emotional impairment and macrosomia.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3206, doi. 10.1002/ajmg.a.36768
By:
- da Rocha, Naiara Braz;
- dos Santos, Pollyanna Almeida Costa;
- Safatle, Heloisa Pires Netto;
- de Melo, RENeide Maria;
- Pereira, Rinaldo Wellerson;
- de Oliveira, SilviENe Fabiana;
- Pic ‐ Taylor, Aline;
- Ferrari, Iris;
- Mazzeu, Juliana Forte
Publication type:
Article
Intragenic duplication-A novel causative mechanism for SATB2-associated syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3083, doi. 10.1002/ajmg.a.36769
By:
- Liedén, Agne;
- Kvarnung, Malin;
- Nilssson, Daniel;
- Sahlin, Ellika;
- Lundberg, Elisabeth Syk
Publication type:
Article
American Journal of Medical Genetics Part A: Volume 164A, Number 12, December 2014.
Published in:
2014
Publication type:
Other
Table of Contents, Volume 164A, Number 12, December 2014.
Published in:
2014
Publication type:
Other
Major congenital anomalies in babies born with Down syndrome: A EUROCAT population-based registry study.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 2979, doi. 10.1002/ajmg.a.36780
By:
- Morris, Joan K.;
- Garne, Ester;
- Wellesley, Diana;
- Addor, Marie ‐ Claude;
- Arriola, Larraitz;
- Barisic, Ingeborg;
- Beres, Judit;
- Bianchi, Fabrizio;
- Budd, Judith;
- Dias, Carlos Matias;
- Gatt, Miriam;
- Klungsoyr, Kari;
- Khoshnood, Babak;
- Latos ‐ BielENska, Anna;
- Mullaney, Carmel;
- NelEN, Vera;
- Neville, Amanda J.;
- O'Mahony, Mary;
- Queisser ‐ Luft, Annette;
- Randrianaivo, Hanitra
Publication type:
Article
Possible preventive effect of high doses of folic acid for isolated hypospadias: A national population-based case-control study.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3108, doi. 10.1002/ajmg.a.36781
By:
- MavrogENis, Stelios;
- Urban, Róbert;
- Czeizel, Andrew E.;
- Ács, Nándor
Publication type:
Article
Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3100, doi. 10.1002/ajmg.a.36783
By:
- Baban, Anwar;
- Postma, Alex VincENt;
- Marini, Monica;
- Trocchio, Gianluca;
- Santilli, Antonella;
- Pelegrini, Monica;
- Sirleto, Pietro;
- Lerone, Margherita;
- Albanese, Sonia Bernadette;
- Barnett, Phil;
- Boogerd, Cornelis Job;
- Dallapiccola, Bruno;
- Digilio, Maria Cristina;
- Ravazzolo, Roberto;
- Pongiglione, Giacomo
Publication type:
Article
Molecular etiology of non-dominant, non-syndromic, mild-to-moderate childhood hearing impairment in Chinese Hans.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3115, doi. 10.1002/ajmg.a.36785
By:
- Chai, Yongchuan;
- Pang, Xiuhong;
- ChEN, Dongye;
- Li, Lei;
- ChEN, Ying;
- Sun, Lianhua;
- Wang, XiaowEN;
- Wu, Hao;
- Yang, Tao
Publication type:
Article
De novo interstitial deletion 2q14.1q22.1: Is there a recognizable phenotype?
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3194, doi. 10.1002/ajmg.a.36786
By:
- Greally, Marie T.;
- Robinson, Eve;
- AllEN, Nicholas M.;
- O'Donovan, Donough;
- Crolla, John A.
Publication type:
Article
Disruption of the ARID1B and ADAMTS6 loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3126, doi. 10.1002/ajmg.a.36738
By:
- Malli, Theodora;
- Duba, Hans ‐ Christoph;
- Erdel, Martin;
- Marschon, RENate;
- Kranewitter, Wolfgang;
- Deutschbauer, Sabine;
- Kralik, Johanna;
- Diel, Evita;
- GüENther, Barbara;
- Mueller, Doris;
- Webersinke, Gerald
Publication type:
Article
Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 2996, doi. 10.1002/ajmg.a.36739
By:
- Gal, Moran;
- Levanon, Erez Y.;
- Hujeirat, Yasir;
- Khayat, Morad;
- Pe'er, Jacob;
- Shalev, Stavit
Publication type:
Article
Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: A study of intrafamilial and interfamilial variability in 23 Italian pedigrees.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3010, doi. 10.1002/ajmg.a.36805
By:
- Castori, Marco;
- Dordoni, Chiara;
- Valiante, Michele;
- Sperduti, Isabella;
- Ritelli, Marco;
- Morlino, Silvia;
- Chiarelli, Nicola;
- Celletti, Claudia;
- VENturini, Marina;
- Camerota, Filippo;
- Calzavara ‐ Pinton, Piergiacomo;
- Grammatico, Paola;
- Colombi, Marina
Publication type:
Article