Works matching IS 15524825 AND DT 2014 AND VI 164A AND IP 10

Results: 49

Single mutations in ABCA3 increase the risk for neonatal respiratory distress syndrome in late preterm infants (gestational age 34-36 weeks).
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2676, doi. 10.1002/ajmg.a.36660
By:
- Naderi, Hodad M.;
- Murray, Jeffrey C.;
- Dagle, John M.
Publication type:
Article
Four-decade-old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2679, doi. 10.1002/ajmg.a.36671
By:
- Takenouchi, Toshiki;
- Tsukahara, Yuki;
- Horikawa, Reiko;
- Kosaki, Kenjiro;
- Kosaki, Rika
Publication type:
Article
Opitz award winners focus on hemihyperplasia, Kabuki syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. viii, doi. 10.1002/ajmg.a.36756
Publication type:
Article
Paternal germline mosaicism for a GPC3 deletion in X-linked Simpson-Golabi-Behmel syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2682, doi. 10.1002/ajmg.a.36682
By:
- Agatep, Ron;
- Shuman, Cheryl;
- Steele, Leslie;
- Parkinson, Nicole;
- Weksberg, Rosanna;
- Stockley, Tracy L.
Publication type:
Article
Genetic risk factors for orofacial clefts in Central Africans and Southeast Asians.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2572, doi. 10.1002/ajmg.a.36693
By:
- Figueiredo, Jane C.;
- Ly, Stephanie;
- Raimondi, Haley;
- Magee, Kathy;
- Baurley, James W.;
- Sanchez‐Lara, Pedro A.;
- Ihenacho, Ugonna;
- Yao, Caroline;
- Edlund, Christopher K.;
- van den Berg, David;
- Casey, Graham;
- DeClerk, Yves A.;
- Samet, Jonathan M.;
- Magee, William
Publication type:
Article
Etiology and pathogenesis of ectodermal dysplasias.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2472, doi. 10.1002/ajmg.a.36550
By:
- Itin, Peter H.
Publication type:
Article
Modeling AEC-New approaches to study rare genetic disorders.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2443, doi. 10.1002/ajmg.a.36455
By:
- Koch, Peter J.;
- Dinella, Jason;
- Fete, Mary;
- Siegfried, Elaine C.;
- Koster, Maranke I.
Publication type:
Article
The first case of a patient with de novo partial distal 16q tetrasomy and a data's review.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2541, doi. 10.1002/ajmg.a.36686
By:
- Kucharczyk, Marzena;
- Kochański, Andrzej;
- Jezela‐Stanek, Aleksandra;
- Kugaudo, Monika;
- Sielska‐Rotblum, Danuta;
- Gutkowska, Anna;
- Krajewska‐Walasek, Małgorzata
Publication type:
Article
Delineating the phenotype of 1p36 deletion in adolescents and adults.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2496, doi. 10.1002/ajmg.a.36657
By:
- Brazil, Ashley;
- Stanford, Kevin;
- Smolarek, Teresa;
- Hopkin, Robert
Publication type:
Article
Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2649, doi. 10.1002/ajmg.a.36679
By:
- Watson, Christopher M.;
- Crinnion, Laura A.;
- Tzika, Antigoni;
- Mills, Alison;
- Coates, Andrea;
- Pendlebury, Maria;
- Hewitt, Sarah;
- Harrison, Sally M.;
- Daly, Catherine;
- Roberts, Paul;
- Carr, Ian M.;
- Sheridan, Eamonn G.;
- Bonthron, David T.
Publication type:
Article
Second International Conference on a classification of ectodermal dysplasias: Development of a multiaxis model.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2482, doi. 10.1002/ajmg.a.36507
By:
- Salinas, Carlos F.;
- Irvine, Alan D.;
- Itin, Peter H.;
- Di Giovanna, John J.;
- Schneider, Holm;
- Clarke, Angus J.;
- McGovern, Laura Sternesky;
- Fete, Mary
Publication type:
Article
Atypical Aicardi-Goutieres syndrome: Is the WRN locus a modifier?
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2510, doi. 10.1002/ajmg.a.36664
By:
- Lessel, Davor;
- Saha, Bidisha;
- Hisama, Fuki;
- Kaymakamzade, Bahar;
- Nurlu, Gulay;
- Gursoy‐Özdemir, Yasemin;
- Thiele, Holger;
- Nürnberg, Peter;
- Martin, George M.;
- Kubisch, Christian;
- Oshima, Junko
Publication type:
Article
Future developments in XLHED treatment approaches.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2433, doi. 10.1002/ajmg.a.36499
By:
- Huttner, Kenneth
Publication type:
Article
Spread of X inactivation on chromosome 15 is associated with a more severe phenotype in a girl with an unbalanced t(X; 15) translocation.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2521, doi. 10.1002/ajmg.a.36670
By:
- Yeung, KS;
- Chee, YY;
- Luk, HM;
- Kan, Anita SY;
- Tang, Mary HY;
- Lau, Elizabeth T;
- Shuen, Andrew Y;
- Lo, Ivan FM;
- Chan, Kelvin YK;
- Chung, Brian HY
Publication type:
Article
Facial analysis technology aids diagnoses of genetic disorders.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. vii, doi. 10.1002/ajmg.a.36755
By:
- Levenson, Deborah
Publication type:
Article
Marshall syndrome: Further evidence of a distinct phenotypic entity and report of new findings.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2601, doi. 10.1002/ajmg.a.36681
By:
- Khalifa, O.;
- Imtiaz, F.;
- Ramzan, K.;
- Allam, R.;
- Hemidan, A. Al‐;
- Faqeih, E.;
- Abuharb, G.;
- Balobaid, A.;
- Sakati, N.;
- Owain, M. Al‐
Publication type:
Article
Table of Contents, Volume 164A, Number 10, October 2014.
Published in:
2014
Publication type:
Other
Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: A single case observation.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2667, doi. 10.1002/ajmg.a.36692
By:
- Simsek‐Kiper, Pelin Ozlem;
- Dikoglu, Esra;
- Campos‐Xavier, Belinda;
- Utine, Gulen Eda;
- Bonafe, Luisa;
- Unger, Sheila;
- Boduroglu, Koray;
- Superti‐Furga, Andrea
Publication type:
Article
Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader-Willi/Angelman syndrome critical region.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2514, doi. 10.1002/ajmg.a.36663
By:
- Aypar, Umut;
- Brodersen, Pamela R.;
- Lundquist, Patrick A.;
- Dawson, D. Brian;
- Thorland, Erik C.;
- Hoppman, Nicole
Publication type:
Article
The WNT10A gene in ectodermal dysplasias and selective tooth agenesis.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2455, doi. 10.1002/ajmg.a.36520
By:
- Mues, Gabriele;
- Bonds, John;
- Xiang, Lilin;
- Vieira, Alexandre R.;
- Seymen, Figen;
- Klein, Ophir;
- D'Souza, Rena N.
Publication type:
Article
Orodental manifestations in ectodermal dysplasia-A review.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2465, doi. 10.1002/ajmg.a.36571
By:
- Bergendal, Birgitta
Publication type:
Article
Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2656, doi. 10.1002/ajmg.a.36685
By:
- Lehman, Anna;
- Stittrich, Anna‐Barbara;
- Glusman, Gustavo;
- Zong, Zheyuan;
- Li, Hong;
- Eydoux, Patrice;
- Senger, Christof;
- Lyons, Christopher;
- Roach, Jared C.;
- Patel, Millan
Publication type:
Article
Update on ectodermal dysplasias clinical classification.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2415, doi. 10.1002/ajmg.a.36616
By:
- Pagnan, Nina Amália Brancia;
- Visinoni, Átila Fernando
Publication type:
Article
Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2490, doi. 10.1002/ajmg.a.36656
By:
- Martin, Brett M.;
- Ivanova, Margarita H.;
- Sarukhanov, Anna;
- Kim, Ashley;
- Power, Patricia;
- Pugash, Denise;
- Popescu, Oana‐Eugenia;
- Lachman, Ralph S.;
- Krakow, Deborah;
- Patel, Millan S.
Publication type:
Article
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2557, doi. 10.1002/ajmg.a.36696
By:
- Wenger, Tara L.;
- Harr, Margaret;
- Ricciardi, Stefania;
- Bhoj, Elizabeth;
- Santani, Avni;
- Adam, Margaret P.;
- Barnett, Sarah S.;
- Ganetzky, Rebecca;
- McDonald‐McGinn, Donna M.;
- Battaglia, Domenica;
- Bigoni, Stefania;
- Selicorni, Angelo;
- Sorge, Giovanni;
- Monica, Matteo Della;
- Mari, Francesca;
- Andreucci, Elena;
- Romano, Silvia;
- Cocchi, Guido;
- Savasta, Salvatore;
- Malbora, Baris
Publication type:
Article
Interstitial 10p11.23-p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2623, doi. 10.1002/ajmg.a.36627
By:
- Mroczkowski, Henry J.;
- Arnold, Georgianne;
- Schneck, Francis X.;
- Rajkovic, Aleksandar;
- Yatsenko, Svetlana A.
Publication type:
Article
Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2627, doi. 10.1002/ajmg.a.36667
By:
- Lonardo, Fortunato;
- Di Natale, Paola;
- Lualdi, Susanna;
- Acquaviva, Fabio;
- Cuoco, Cristina;
- Scarano, Francesca;
- Maioli, Marianna;
- Pavone, Luigi Michele;
- Di Gregorio, Grazia;
- Filocamo, Mirella;
- Scarano, Gioacchino
Publication type:
Article
X-linked hypohidrotic ectodermal dysplasia (XLHED): Clinical and diagnostic insights from an international patient registry.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2437, doi. 10.1002/ajmg.a.36436
By:
- Fete, Mary;
- Hermann, Julie;
- Behrens, Jeffrey;
- Huttner, Kenneth M.
Publication type:
Article
Respiratory problems in patients with ectodermal dysplasia syndromes.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2478, doi. 10.1002/ajmg.a.36600
By:
- Fete, Timothy
Publication type:
Article
Rare functional variants in genome-wide association identified candidate genes for nonsyndromic clefts in the African population.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2567, doi. 10.1002/ajmg.a.36691
By:
- Butali, Azeez;
- Mossey, Peter;
- Adeyemo, Wasiu;
- Eshete, Mekonen;
- Gaines, Lauren;
- Braimah, Ramat;
- Aregbesola, Babatunde;
- Rigdon, Jennifer;
- Emeka, Christian;
- Olutayo, James;
- Ogunlewe, Olugbenga;
- Ladeinde, Akinola;
- Abate, Fikre;
- Hailu, Taye;
- Mohammed, Ibrahim;
- Gravem, Paul;
- Deribew, Milliard;
- Gesses, Mulualem;
- Adeyemo, Adebowale;
- Marazita, Mary
Publication type:
Article
American Journal of Medical Genetics Part A: Volume 164A, Number 10, October 2014.
Published in:
2014
Publication type:
Other
Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2618, doi. 10.1002/ajmg.a.36662
By:
- Piard, Juliette;
- Mignot, Brigitte;
- Arbez‐Gindre, Francine;
- Aubert, Didier;
- Morel, Yves;
- Roze, Virginie;
- McElreavy, Kenneth;
- Jonveaux, Philippe;
- Valduga, Mylène;
- Van Maldergem, Lionel
Publication type:
Article
Fetal akinesia deformation sequence: Expanding the phenotypic spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2643, doi. 10.1002/ajmg.a.36673
By:
- Nayak, Shalini S.;
- Kadavigere, Rajagopal;
- Mathew, Mary;
- Kumar, Pratap;
- Hall, Judith G.;
- Girisha, Katta M.
Publication type:
Article
Unusual prenatal presentation of Rubinstein-Taybi syndrome: A case report.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2663, doi. 10.1002/ajmg.a.36684
By:
- Bedeschi, Maria Francesca;
- Crippa, Beatrice Letizia;
- Colombo, Lorenzo;
- Guez, Sophie;
- Cerruti, Marta;
- Fogliani, Roberto;
- Gervasini, Cristina;
- Lalatta, Faustina
Publication type:
Article
Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2424, doi. 10.1002/ajmg.a.36541
By:
- Burger, Kristin;
- Schneider, Anne‐Theres;
- Wohlfart, Sigrun;
- Kiesewetter, Franklin;
- Huttner, Kenneth;
- Johnson, Ramsey;
- Schneider, Holm
Publication type:
Article
Laterality defects in the national birth defects prevention study (1998-2007): Birth prevalence and descriptive epidemiology.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2581, doi. 10.1002/ajmg.a.36695
By:
- Lin, Angela E.;
- Krikov, Sergey;
- Riehle‐Colarusso, Tiffany;
- Frías, Jaime L.;
- Belmont, John;
- Anderka, Marlene;
- Geva, Tal;
- Getz, Kelly D.;
- Botto, Lorenzo D.
Publication type:
Article
An osteosclerotic form of Robinow syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2638, doi. 10.1002/ajmg.a.36677
By:
- Bunn, Kieran J.;
- Lai, Angeline;
- Al‐Ani, Azza;
- Farella, Mauro;
- Craw, Susan;
- Robertson, Stephen P.
Publication type:
Article
A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2607, doi. 10.1002/ajmg.a.36688
By:
- Hufnagel, Sophia B.;
- Weaver, K Nicole;
- Hufnagel, Robert B.;
- Bader, Patricia I.;
- Schorry, Elizabeth K.;
- Hopkin, Robert J.
Publication type:
Article
Copy number variation in bronchopulmonary dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2672, doi. 10.1002/ajmg.a.36659
By:
- Hoffmann, Thomas J.;
- Shaw, Gary M.;
- Stevenson, David K.;
- Wang, Hui;
- Quaintance, Cecele C.;
- Oehlert, John;
- Jelliffe‐Pawlowski, Laura L.;
- Gould, Jeffrey B.;
- Witte, John S.;
- O'Brodovich, Hugh M.
Publication type:
Article
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome in an adolescent with complex chromosomal rearrangement and intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2685, doi. 10.1002/ajmg.a.36690
By:
- Oliveira, Mariana Moysés;
- Meloni, Vera Ayres;
- Canonaco, Rosane Seidler;
- Takeno, Sylvia Satomi;
- Bortolai, Adriana;
- de Mello, Claudia Berlim;
- de Lima, Fernanda Teresa;
- Melaragno, Maria Isabel
Publication type:
Article
Distal Xq28 microdeletions: Clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2613, doi. 10.1002/ajmg.a.36661
By:
- Calhoun, Amy R.U.L.;
- Raymond, Gerald V.
Publication type:
Article
Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2633, doi. 10.1002/ajmg.a.36672
By:
- Emrick, Lisa T.;
- Murphy, Lauren;
- Shamshirsaz, Alireza A.;
- Ruano, Rodrigo;
- Cassady, Christopher I.;
- Liu, Liu;
- Chang, Fengqi;
- Sutton, V. Reid;
- Li, Marilyn;
- Van den Veyver, Ignatia B.
Publication type:
Article
In this issue.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. x, doi. 10.1002/ajmg.a.36757
Publication type:
Article
Poikiloderma with neutropenia: Genotype-ethnic origin correlation, expanding phenotype and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2535, doi. 10.1002/ajmg.a.36683
By:
- Koparir, Asuman;
- Gezdirici, Alper;
- Koparir, Erkan;
- Ulucan, Hakan;
- Yilmaz, Mehmet;
- Erdemir, Aslı;
- Yuksel, Adnan;
- Ozen, Mustafa
Publication type:
Article
Differences in perspective on prognosis and treatment of children with trisomy 18.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2551, doi. 10.1002/ajmg.a.36687
By:
- Hurley, Edward H.;
- Krishnan, Sankaran;
- Parton, Lance A.;
- Dozor, Allen J.
Publication type:
Article
Inversion duplication deletions involving the long arm of chromosome 13: Phenotypic description of additional three fetuses and genotype-phenotype correlation.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2504, doi. 10.1002/ajmg.a.36658
By:
- Quelin, Chloe;
- Spaggiari, Emmanuel;
- Khung‐Savatovsky, Suonavy;
- Dupont, Celine;
- Pasquier, Laurent;
- Loeuillet, Laurence;
- Jaillard, Sylvie;
- Lucas, Josette;
- Marcorelles, Pascale;
- Journel, Hubert;
- Pluquailec‐Bilavarn, Khantaby;
- Bazin, Anne;
- Verloes, Alain;
- Delezoide, Anne‐Lise;
- Aboura, Azzedine;
- Guimiot, Fabien
Publication type:
Article
Genetic testing and corresponding services among individuals with autism spectrum disorder (ASD).
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2592, doi. 10.1002/ajmg.a.36698
By:
- Cuccaro, Michael L.;
- Czape, Kayla;
- Alessandri, Michael;
- Lee, Joycelyn;
- Deppen, Abigail Rupchock;
- Bendik, Elise;
- Dueker, Nicole;
- Nations, Laura;
- Pericak‐Vance, Margaret;
- Hahn, Susan
Publication type:
Article
Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2529, doi. 10.1002/ajmg.a.36669
By:
- Mitsui, Toshikatsu;
- Kim, Ok‐Hwa;
- Hall, Christine M.;
- Offiah, Amaka;
- Johnson, Diana;
- Jin, Dong‐Kyu;
- Toh, Teck‐Hock;
- Soneda, Shun;
- Keino, Dai;
- Matsubayashi, Shohei;
- Ishii, Tomohiro;
- Nishimura, Gen;
- Hasegawa, Tomonobu
Publication type:
Article
Cognitive profile of school-age children and teenagers with hypohidrotic ectodermal dysplasia (HED).
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2461, doi. 10.1002/ajmg.a.36519
By:
- Hadj‐Rabia, Smail;
- Jacob, Stéphane;
- Dufresne, Hélène;
- Mashiah, Jacob;
- Vaivre‐Douret, Laurence;
- Bodemer, Christine
Publication type:
Article