Works matching IS 15524825 AND DT 2015 AND VI 167A AND IP 3

Results: 36

In this issue.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. x, doi. 10.1002/ajmg.a.37021
Publication type:
Article
Interstitial duplication of chromosome region 1q25.1q25.3: Report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 653, doi. 10.1002/ajmg.a.36943
By:
- Kehrer, Martin;
- Liehr, Thomas;
- Benkert, Tanja;
- Singer, Sylke;
- Grasshoff, Ute;
- Schaeferhoff, Karin;
- Bonin, Michael;
- Weichselbaum, Annette;
- Tzschach, Andreas
Publication type:
Article
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 657, doi. 10.1002/ajmg.a.36944
By:
- Pedurupillay, Christeen Ramane J.;
- Barøy, Tuva;
- Holmgren, Asbjørn;
- Blomhoff, Anne;
- Vigeland, Magnus D.;
- Sheng, Ying;
- Frengen, Eirik;
- Strømme, Petter;
- Misceo, Doriana
Publication type:
Article
Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: Review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 664, doi. 10.1002/ajmg.a.36945
By:
- Tanteles, George A.;
- Alexandrou, Angelos;
- Evangelidou, Paola;
- Gavatha, Marina;
- Anastasiadou, Violetta;
- Sismani, Carolina
Publication type:
Article
Research delves into role of key proteins in fragile X syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. ix, doi. 10.1002/ajmg.a.37020
Publication type:
Article
Renal complications in 6p duplication syndrome: Microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS).
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 592, doi. 10.1002/ajmg.a.36942
By:
- Yoshimura‐Furuhata, Megumi;
- Nishimura‐Tadaki, Akira;
- Amano, Yoshiro;
- Ehara, Takashi;
- Hamasaki, Yuko;
- Muramatsu, Masaki;
- Shishido, Seiichiro;
- Aikawa, Atsushi;
- Hamada, Riku;
- Ishikura, Kenji;
- Hataya, Hiroshi;
- Hidaka, Yoshihiko;
- Noda, Shunsuke;
- Koike, Kenichi;
- Wakui, Keiko;
- Fukushima, Yoshimitsu;
- Matsumoto, Naomichi;
- Awazu, Midori;
- Miyake, Noriko;
- Kosho, Tomoki
Publication type:
Article
Anirdia-like phenotype caused by 6p25 dosage aberrations.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 524, doi. 10.1002/ajmg.a.36890
By:
- Arcot Sadagopan, Karthikeyan;
- Liu, Grace T.;
- Capasso, Jenina E.;
- Wuthisiri, Wadakarn;
- Keep, Rosanne B.;
- Levin, Alex V.
Publication type:
Article
A post GWAS association study of SNPs associated with cleft lip with or without cleft palate in submucous cleft palate.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 670, doi. 10.1002/ajmg.a.36891
By:
- Reiter, Rudolf;
- Brosch, Sibylle;
- Goebel, Ingrid;
- Ludwig, Kerstin U.;
- Pickhard, Anja;
- Högel, Josef;
- Schlömer, Guido;
- Mangold, Elisabeth;
- Kubisch, Christian;
- Borck, Guntram
Publication type:
Article
Response to 'Prenatal genetic counseling in klinefelter syndrome: Comments on the article by Lalatta and Tint [2013] and a proposal of a new approach' by Pimpolari et al.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 678, doi. 10.1002/ajmg.a.36892
By:
- Lalatta, Faustina;
- Tint, G Stephen
Publication type:
Article
Craniofacial dysmorphology in 22q11.2 deletion syndrome by 3D laser surface imaging and geometric morphometrics: Illuminating the developmental relationship to risk for psychosis.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 529, doi. 10.1002/ajmg.a.36893
By:
- Prasad, Sarah;
- Katina, Stanislav;
- Hennessy, Robin J.;
- Murphy, Kieran C.;
- Bowman, Adrian W.;
- Waddington, John L.
Publication type:
Article
Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 537, doi. 10.1002/ajmg.a.36895
By:
- Tassano, Elisa;
- Jagannathan, Vidhya;
- Drögemüller, Cord;
- Leoni, Massimiliano;
- Hytönen, Marjo K.;
- Severino, Mariasavina;
- Gimelli, Stefania;
- Cuoco, Cristina;
- Di Rocco, Maja;
- Sanio, Kirsi;
- Groves, Andrew K.;
- Leeb, Tosso;
- Gimelli, Giorgio
Publication type:
Article
Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 545, doi. 10.1002/ajmg.a.36896
By:
- Leslie, Elizabeth J.;
- O'Sullivan, James;
- Cunningham, Michael L.;
- Singh, Ankur;
- Goudy, Steven L.;
- Ababneh, Faroug;
- Alsubaie, Lamia;
- Ch'ng, Gaik‐Siew;
- van der Laar, Ingrid M. B. H.;
- M. Hoogeboom, A. Jeannette;
- Dunnwald, Martine;
- Kapoor, Seema;
- Jiramongkolchai, Pawina;
- Standley, Jennifer;
- Manak, J. Robert;
- Murray, Jeffrey C.;
- Dixon, Michael J.
Publication type:
Article
Duplication Xp11.22-p14 in females: Does X-inactivation help in assessing their significance?
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 553, doi. 10.1002/ajmg.a.36897
By:
- Evers, Christina;
- Mitter, Diana;
- Strobl‐Wildemann, Gertrud;
- Haug, Ulrich;
- Hackmann, Karl;
- Maas, Bianca;
- Janssen, Johannes W. G.;
- Jauch, Anna;
- Hinderhofer, Katrin;
- Moog, Ute
Publication type:
Article
Recurrent enlarged nuchal translucency: First trimester presentation of a familial 15q26→qter deletion.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 612, doi. 10.1002/ajmg.a.36913
By:
- Reiss, Rosemary;
- Ahern, Diane;
- Sandstrom, Mary;
- Wilkins‐Haug, Louise
Publication type:
Article
Hypoplastic left heart syndrome and 21q22.3 deletion.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 579, doi. 10.1002/ajmg.a.36914
By:
- Ciocca, Laura;
- Digilio, M. Cristina;
- Lombardo, Antonietta;
- D'Elia, Gemma;
- Baban, Anwar;
- Capolino, Rossella;
- Petrocchi, Stefano;
- Russo, Serena;
- Sirleto, Pietro;
- Roberti, M. Cristina;
- Marino, Bruno;
- Angioni, Adriano;
- Dallapiccola, Bruno
Publication type:
Article
Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 617, doi. 10.1002/ajmg.a.36915
By:
- Li, Mindy H.;
- Eberhard, Moriah;
- Mudd, Pamela;
- Javia, Luv;
- Zimmerman, Robert;
- Khalek, Nahla;
- Zackai, Elaine H.
Publication type:
Article
CRTAP mutation in a patient with Cole-Carpenter syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 587, doi. 10.1002/ajmg.a.36916
By:
- Balasubramanian, Meena;
- Pollitt, Rebecca C.;
- Chandler, Kate E.;
- Mughal, M. Z.;
- Parker, Michael J.;
- Dalton, Ann;
- Arundel, Paul;
- Offiah, Amaka C.;
- Bishop, Nicholas J.
Publication type:
Article
American Journal of Medical Genetics Part A: Volume 167A, Number 3, March 2015.
Published in:
2015
Publication type:
Other
Table of Contents, Volume 167A, Number 03, March 2015.
Published in:
2015
Publication type:
Other
Significant clinical benefits of molecular studies in the skeletal dysplasias.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 476, doi. 10.1002/ajmg.a.36931
By:
- Superti‐Furga, Andrea
Publication type:
Article
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 646, doi. 10.1002/ajmg.a.36933
By:
- Accogli, Andrea;
- Pacetti, Mattia;
- Fiaschi, Pietro;
- Pavanello, Marco;
- Piatelli, Gianluca;
- Nuzzi, Daniele;
- Baldi, Maurizia;
- Tassano, Elisa;
- Severino, Maria Savina;
- Allegri, Anna;
- Capra, Valeria
Publication type:
Article
'X-linked mental retardation and conjuntival teleangectasias': Correction of the previously reported karyotype.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 677, doi. 10.1002/ajmg.a.36888
By:
- Cianchetti, Carlo;
- Nucaro, Annalisa
Publication type:
Article
Biochemical abnormalities in Pearson syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 621, doi. 10.1002/ajmg.a.36939
By:
- Crippa, Beatrice Letizia;
- Leon, Eyby;
- Calhoun, Amy;
- Lowichik, Amy;
- Pasquali, Marzia;
- Longo, Nicola
Publication type:
Article
Benefits of genomic sequencing evident in pediatric diagnoses.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. vii, doi. 10.1002/ajmg.a.37019
Publication type:
Article
Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 504, doi. 10.1002/ajmg.a.36882
By:
- Jedraszak, Guillaume;
- Demeer, Bénédicte;
- Mathieu‐Dramard, Michèle;
- Andrieux, Joris;
- Receveur, Aline;
- Weber, Astrid;
- Maye, Una;
- Foulds, Nicola;
- Temple, IK;
- Crolla, John;
- Alex‐Cordier, Marie‐Pierre;
- Sanlaville, Damien;
- Ewans, Lisa;
- Wilson, Meredith;
- Armstrong, Ruth;
- Clarkson, Amanda;
- Copin, Henri;
- Morin, Gilles
Publication type:
Article
Copy number variations in children with brain malformations and refractory epilepsy.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 512, doi. 10.1002/ajmg.a.36886
By:
- Wincent, Josephine;
- Kolbjer, Sintia;
- Martin, Daniel;
- Luthman, Aron;
- Åmark, Per;
- Dahlin, Maria;
- Anderlid, Britt‐Marie
Publication type:
Article
ADAM 'sequence' part II: Hypothesis and speculation.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 478, doi. 10.1002/ajmg.a.36937
By:
- Opitz, John M.;
- Johnson, Dennis R.;
- Gilbert‐Barness, Enid F.
Publication type:
Article
17q12 Microduplications: A challenge for clinicians.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 674, doi. 10.1002/ajmg.a.36905
By:
- Bertini, V.;
- Orsini, A.;
- Bonuccelli, A.;
- Cambi, F.;
- Del Pistoia, M.;
- Vannozzi, I.;
- Toschi, B.;
- Saggese, G.;
- Simi, P.;
- Valetto, A.
Publication type:
Article
Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 607, doi. 10.1002/ajmg.a.36906
By:
- Shalev, Stavit Allon;
- Khayat, Morad;
- Etty, Daniel‐Spiegl;
- Elpeleg, Orly
Publication type:
Article
Increased plasma chemokine levels in children with Prader-Willi syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 563, doi. 10.1002/ajmg.a.36908
By:
- Butler, Merlin G.;
- Hossain, Waheeda;
- Sulsona, Carlos;
- Driscoll, Daniel J.;
- Manzardo, Ann M.
Publication type:
Article
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 461, doi. 10.1002/ajmg.a.36922
By:
- Terhal, Paulien A.;
- Nievelstein, Rutger Jan A. J.;
- Verver, Eva J. J.;
- Topsakal, Vedat;
- van Dommelen, Paula;
- Hoornaert, Kristien;
- Le Merrer, Martine;
- Zankl, Andreas;
- Simon, Marleen E. H.;
- Smithson, Sarah F.;
- Marcelis, Carlo;
- Kerr, Bronwyn;
- Clayton‐Smith, Jill;
- Kinning, Esther;
- Mansour, Sahar;
- Elmslie, Frances;
- Goodwin, Linda;
- van der Hout, Annemarie H.;
- Veenstra‐Knol, Hermine E.;
- Herkert, Johanna C.
Publication type:
Article
Are Angelman and Prader-Willi syndromes more similar than we thought? Food-related behavior problems in Angelman, Cornelia de Lange, Fragile X, Prader-Willi and 1p36 deletion syndromes.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 572, doi. 10.1002/ajmg.a.36923
By:
- Welham, Alice;
- Lau, Johnny King L.;
- Moss, Joanna;
- Cullen, Jenny;
- Higgs, Suzanne;
- Warren, Gemma;
- Wilde, Lucy;
- Marr, Abby;
- Cook, Faye;
- Oliver, Chris
Publication type:
Article
Expanding the phenotype of Timothy syndrome type 2: An adolescent with ventricular fibrillation but normal development.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 629, doi. 10.1002/ajmg.a.36924
By:
- Hiippala, Anita;
- Tallila, Jonna;
- Myllykangas, Samuel;
- Koskenvuo, Juha W;
- Alastalo, Tero‐Pekka
Publication type:
Article
Hepatoblastoma in a patient with methylmalonic aciduria.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 635, doi. 10.1002/ajmg.a.36925
By:
- Chan, Randall;
- Mascarenhas, Leo;
- Boles, Richard G;
- Kerkar, Nanda;
- Genyk, Yuri;
- Venkatramani, Rajkumar
Publication type:
Article
Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 639, doi. 10.1002/ajmg.a.36928
By:
- Boot, Erik;
- Butcher, Nancy J;
- van Amelsvoort, Thérèse AMJ;
- Lang, Anthony E;
- Marras, Connie;
- Pondal, Margarita;
- Andrade, Danielle M;
- Fung, Wai Lun Alan;
- Bassett, Anne S
Publication type:
Article
Apneas observed in trisomy 18 neonates should be differentiated from epileptic apneas.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 602, doi. 10.1002/ajmg.a.36929
By:
- Fukasawa, Tatsuya;
- Kubota, Tetsuo;
- Tanaka, Masaharu;
- Asada, Hideyuki;
- Matsusawa, Kaname;
- Hattori, Tetsuo;
- Kato, Yuichi;
- Negoro, Tamiko
Publication type:
Article