Works matching IS 15524825 AND DT 2012 AND VI 158A AND IP 4

Results: 47

Table of Contents, Volume 158A, Number 4, April 2012.

Published in:: 2012
Publication type:: Other

Balanced complex chromosome rearrangements: Reproductive aspects. A review.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 947, doi. 10.1002/ajmg.a.35220

By:

Madan, Kamlesh

Publication type:

Article

De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 927, doi. 10.1002/ajmg.a.35231

By:

Zampatti, Stefania;
Castori, Marco;
Fischer, Bjoern;
Ferrari, Paola;
Garavelli, Livia;
Dionisi-Vici, Carlo;
Agolini, Emanuele;
Wischmeijer, Anita;
Morava, Eva;
Novelli, Giuseppe;
Häberle, Johannes;
Kornak, Uwe;
Brancati, Francesco

Publication type:

Article

Calcifying leukoencephalopathies: New overlapping phenotypes.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 964, doi. 10.1002/ajmg.a.35242

By:

Orcesi, Simona;
Tonduti, Davide;
La Piana, Roberta

Publication type:

Article

Clinical description of a patient carrying the smallest reported deletion involving 10p14 region.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 832, doi. 10.1002/ajmg.a.34133

By:

Melis, Daniela;
Genesio, Rita;
Boemio, Pasquale;
Del Giudice, Ennio;
Cappuccio, Gerarda;
Mormile, Angela;
Ronga, Valentina;
Conti, Anna;
Imperati, Floriana;
Nitsch, Lucio;
Andria, Generoso

Publication type:

Article

A second case of contractures, webbed neck, micrognathia, hypoplastic nipples, and distinctive facial features: Confirmation of the Dinno syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 836, doi. 10.1002/ajmg.a.35224

By:

Wall, Nerilee;
McGaughran, Julie

Publication type:

Article

Long-term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 909, doi. 10.1002/ajmg.a.35264

By:

Kantaputra, Piranit Nik;
Thawanaphong, Saranya;
Issarangporn, Witchapong;
Klangsinsirikul, Phennapha;
Ohazama, Atsushi;
Sharpe, Paul;
Supanchart, Chayarop

Publication type:

Article

Neurodevelopmental features in 2q23.1 microdeletion syndrome: Report of a new patient with intractable seizures and review of literature.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 861, doi. 10.1002/ajmg.a.35235

By:

Motobayashi, Mitsuo;
Nishimura-Tadaki, Akira;
Inaba, Yuji;
Kosho, Tomoki;
Miyatake, Satoko;
Niimi, Taemi;
Nishimura, Takafumi;
Wakui, Keiko;
Fukushima, Yoshimitsu;
Matsumoto, Naomichi;
Koike, Kenichi

Publication type:

Article

Autism testing service includes telephone counseling.

Published in:: 2012
Publication type:: Other

Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 784, doi. 10.1002/ajmg.a.35257

By:

Shi, Min;
Murray, Jeffrey C.;
Marazita, Mary L.;
Munger, Ronald G.;
Ruczinski, Ingo;
Hetmanski, Jacqueline B.;
Wu, Tao;
Murray, Tanda;
Redett, Richard J.;
Wilcox, Allen J.;
Lie, Rolv T.;
Jabs, Ethylin Wang;
Wu-Chou, Yah Huei;
Chen, Philip K.;
Wang, Hong;
Ye, Xiaoqian;
Yeow, Vincent;
Chong, Samuel S.;
Shi, Bing;
Christensen, Kaare

Publication type:

Article

Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 732, doi. 10.1002/ajmg.a.35228

By:

Denadai, Rafael;
Raposo-Amaral, Cassio E.;
Bertola, Débora;
Kim, Chong;
Alonso, Nivaldo;
Hart, Thomas;
Han, Sangwoo;
Stelini, Rafael F.;
Buzzo, Celso L.;
Raposo-Amaral, Cesar A.;
Hart, P. Suzanne

Publication type:

Article

TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three patients.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 795, doi. 10.1002/ajmg.a.35268

By:

Cho, Tae-Joon;
Matsumoto, Kazu;
Fano, Virginia;
Dai, Jin;
Kim, Ok-Hwa;
Chae, Jong Hee;
Yoo, Won Joon;
Tanaka, Yuji;
Matsui, Yoshito;
Takigami, Iori;
Monges, Soledad;
Zabel, Bernhard;
Shimizu, Katsuji;
Nishimura, Gen;
Lausch, Ekkehart;
Ikegawa, Shiro

Publication type:

Article

De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 882, doi. 10.1002/ajmg.a.35239

By:

Fabretto, Antonella;
Rocca, Maria Santa;
Perrone, Maria Dolores;
Skabar, Aldo;
Pecile, Vanna;
Gasparini, Paolo

Publication type:

Article

Minimal clinical findings in a patient with 15qter microdeletion syndrome: Delineation of the associated phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 922, doi. 10.1002/ajmg.a.34440

By:

Jezela-Stanek, Aleksandra;
Kucharczyk, Marzena;
Pelc, Magdalena;
Chrzanowska, Krystyna H.;
Krajewska-Walasek, Małgorzata

Publication type:

Article

American Journal of Medical Genetics Part A: Volume 158A, Number 4, April 2012.

Published in:: 2012
Publication type:: Other

Nine genes that may contribute to partial trisomy (6)(p22→pter) and unique presentation of persistent hyperplastic primary vitreous with retinal detachment.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 707, doi. 10.1002/ajmg.a.33943

By:

Su, Pen-Hua;
Lee, Inn-Chi;
Yang, Shun-Fa;
Ng, Yan-Yan;
Liu, Chan-Sheng;
Chen, Jia-Yuh

Publication type:

Article

Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: Case report and review of literature.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 821, doi. 10.1002/ajmg.a.32988

By:

Laus, Ana C.;
Baratela, Wagner A.R.;
Laureano, Lucimar A.F.;
Santos, Silvio A.;
Huber, Jair;
Ramos, Ester S.;
Rebelo, Camila C.;
Squire, Jeremy A.;
Martelli, Lucia

Publication type:

Article

Audiological findings in Williams syndrome: A study of 69 patients.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 759, doi. 10.1002/ajmg.a.35241

By:

Barozzi, Stefania;
Soi, Daniela;
Comiotto, Elisabetta;
Borghi, Anna;
Gavioli, Chiara;
Spreafico, Emanuela;
Gagliardi, Chiara;
Selicorni, Angelo;
Forti, Stella;
Ambrosetti, Umberto;
Cesarani, Antonio;
Brambilla, Daniele

Publication type:

Article

Transcription Factor 4 and Myocyte Enhancer Factor 2C mutations are not common causes of Rett syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 713, doi. 10.1002/ajmg.a.34206

By:

Armani, Roksana;
Archer, Hayley;
Clarke, Angus;
Vasudevan, Pradeep;
Zweier, Christiane;
Ho, Gladys;
Williamson, Sarah;
Cloosterman, Desiree;
Yang, Nan;
Christodoulou, John

Publication type:

Article

Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 856, doi. 10.1002/ajmg.a.35234

By:

Capalbo, D.;
Melis, D.;
De Martino, L.;
Palamaro, L.;
Riccomagno, S.;
Bona, G.;
Cordeddu, V.;
Pignata, C.;
Salerno, M.

Publication type:

Article

Researchers use bloodspots to identify genetic hearing loss.

Published in:: 2012
Publication type:: Other

Hydrocephalus with Hirschsprung disease: Severe end of X-linked hydrocephalus spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 812, doi. 10.1002/ajmg.a.35245

By:

Takenouchi, Toshiki;
Nakazawa, Mie;
Kanemura, Yonehiro;
Shimozato, Sachiko;
Yamasaki, Mami;
Takahashi, Takao;
Kosaki, Kenjiro

Publication type:

Article

A MID1 gene mutation in a patient with Opitz G/BBB syndrome that altered the 3D structure of SPRY domain.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 726, doi. 10.1002/ajmg.a.35216

By:

Hu, Ching-Hsuan;
Liu, Yu-Fan;
Yu, Ju-Shan;
Ng, Yan-Yan;
Chen, Suh-Jen;
Su, Pen-Hua;
Chen, Jia-Yuh

Publication type:

Article

A phenotype map for 14q32.3 terminal deletions.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 695, doi. 10.1002/ajmg.a.35256

By:

Engels, Hartmut;
Schüler, Herdit M.;
Zink, Alexander M.;
Wohlleber, Eva;
Brockschmidt, Antje;
Hoischen, Alexander;
Drechsler, Matthias;
Lee, Jennifer A.;
Ludwig, Kerstin U.;
Kubisch, Christian;
Schwanitz, Gesa;
Weber, Ruthild G.;
Leube, Barbara;
Hennekam, Raoul C. M.;
Rudnik-Schöneborn, Sabine;
Kreiß-Nachtsheim, Martina;
Reutter, Heiko

Publication type:

Article

Prenatal testing for Down syndrome: The perspectives of parents of individuals with Down syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 743, doi. 10.1002/ajmg.a.35238

By:

Inglis, Angela;
Hippman, Catriona;
Austin, Jehannine C.

Publication type:

Article

Energy homeostasis in Prader-Willi Syndrome: How clinical research informs studies of animal models of genetic obesity.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 966, doi. 10.1002/ajmg.a.35249

By:

Mercer, Rebecca E.;
Wevrick, Rachel

Publication type:

Article

In this issue.

Published in:: 2012
Publication type:: Other

Risk factors for nonsyndromic holoprosencephaly: A Manitoba case-control study.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 751, doi. 10.1002/ajmg.a.35240

By:

Vaz, Simone S.;
Chodirker, Bernard;
Prasad, Chitra;
Seabrook, Jamie A.;
Chudley, Albert E.;
Prasad, Asuri N.

Publication type:

Article

Complete monosomy 21 confirmed by FISH and array-CGH.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 935, doi. 10.1002/ajmg.a.35251

By:

Kulharya, Anita S.;
Tonk, Vijay S.;
Lovell, Carolyn;
Flannery, David B.

Publication type:

Article

An intellectually disabled patient with the 5q14.3q15 microdeletion syndrome associated with an apparently de novo t(2;5)(q13;q14).

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 942, doi. 10.1002/ajmg.a.35262

By:

Toral-López, Jaime;
Buentello-Volante, Beatriz;
Balderas-Minor, Marta M.;
Amezcua-Herrera, Carmen;
Valdes-Miranda, Juan M.;
González-Huerta, Luz Ma.;
Gudiño, Marco;
Cuevas-Covarrubias, Sergio A.;
Zenteno, Juan Carlos

Publication type:

Article

The omega-6 fatty acid linoleic acid is associated with risk of gastroschisis: A novel dietary risk factor.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 803, doi. 10.1002/ajmg.a.35204

By:

Weiss, Lauren A.;
Chambers, Christina D.;
Gonzalez, Vanessa;
Hagey, Lee R.;
Jones, Kenneth Lyons

Publication type:

Article

Association of X-linked hydrocephalus and Hirschsprung disease: Report of a new patient with a mutation in the L1CAM gene.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 816, doi. 10.1002/ajmg.a.35244

By:

Fernández, Raquel M.;
Núñez-Torres, Rocío;
García-Díaz, Lutgardo;
de Agustín, Juan Carlos;
Antiñolo, Guillermo;
Borrego, Salud

Publication type:

Article

Neonatal detection of 5p13.2 duplication and delineation of the phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 877, doi. 10.1002/ajmg.a.35237

By:

Romero, M. Carmen Carrascosa;
Hoyo, Rosa García;
Calvente, María;
Cano, María Baquero;
Castillo, Llanos González;
Suela, Javier

Publication type:

Article

A novel maternally-derived insertional translocation resulting in partial trisomy 4q13.2-q22.1 with complex translocation t(8;20) in a family with intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 901, doi. 10.1002/ajmg.a.35259

By:

Assawamakin, Anunchai;
Wattanasirichaigoon, Duangrurdee;
Tocharoentanaphol, Chintana;
Waeteekul, Supaporn;
Tansatit, Montakarn;
Thongnoppakhun, Wanna;
Limwongse, Chanin

Publication type:

Article

Botulinum toxin injections into salivary glands to decrease oral secretions in CHARGE syndrome: Prospective case study.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 828, doi. 10.1002/ajmg.a.33241

By:

Blake, Kim D.;
MacCuspie, Jillian;
Corsten, Gerard

Publication type:

Article

Male sex bias in placental dysfunction.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 779, doi. 10.1002/ajmg.a.35250

By:

Murji, Ally;
Proctor, Leslie K.;
Paterson, Andrew D.;
Chitayat, David;
Weksberg, Rosanna;
Kingdom, John

Publication type:

Article

Early-onset osteoarthritis in Ehlers-Danlos syndrome type VIII.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 938, doi. 10.1002/ajmg.a.35261

By:

Reinstein, Eyal;
Pariani, Mitchel;
Lachman, Ralph S.;
Nemec, Stephen;
Rimoin, David L.

Publication type:

Article

Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 850, doi. 10.1002/ajmg.a.35232

By:

Voermans, N.C.;
Kempers, M.;
Lammens, M.;
van Alfen, N.;
Janssen, M.C.;
Bönnemann, C.;
van Engelen, B.G.;
Hamel, B.C.

Publication type:

Article

Hypothesis: Estrogen related thrombosis explains the pathogenesis and epidemiology of gastroschisis.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 808, doi. 10.1002/ajmg.a.35203

By:

Lubinsky, Mark

Publication type:

Article

Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 772, doi. 10.1002/ajmg.a.35243

By:

Kondo, Eri;
Nishimura, Takafumi;
Kosho, Tomoki;
Inaba, Yuji;
Mitsuhashi, Satomi;
Ishida, Takefumi;
Baba, Atsushi;
Koike, Kenichi;
Nishino, Ichizo;
Nonaka, Ikuya;
Furukawa, Toru;
Saito, Kayoko

Publication type:

Article

Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: Early diagnosis of syndromic patients.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 720, doi. 10.1002/ajmg.a.35214

By:

Sørensen, Karina Meden;
El-Segaier, Milad;
Fernlund, Eva;
Errami, Ab;
Bouvagnet, Patrice;
Nehme, Nancy;
Steensberg, Jesper;
Hjortdal, Vibeke;
Soller, Maria;
Behjati, Mohaddeseh;
Werge, Thomas;
Kirchoff, Maria;
Schouten, Jan;
Tommerup, Niels;
Andersen, Paal Skytt;
Larsen, Lars Allan

Publication type:

Article

Expanding the spectrum of rearrangements involving chromosome 19: A mild phenotype associated with a 19p13.12-p13.13 deletion.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 888, doi. 10.1002/ajmg.a.35254

By:

Marangi, Giuseppe;
Orteschi, Daniela;
Vigevano, Federico;
Felie, Jillian;
Walsh, Christopher A.;
Manzini, M. Chiara;
Neri, Giovanni

Publication type:

Article

Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 917, doi. 10.1002/ajmg.a.35265

By:

Magini, Pamela;
Monica, Matteo Della;
Uzielli, Maria Luisa Giovannucci;
Mongelli, Patrizia;
Scarselli, Gloria;
Gambineri, Eleonora;
Scarano, Gioacchino;
Seri, Marco

Publication type:

Article

Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 869, doi. 10.1002/ajmg.a.35236

By:

Szabó, Gabriella P.;
Knegt, Alida C.;
Ujfalusi, Anikó;
Balogh, Erzsébet;
Szabó, Tamás;
Oláh, Éva

Publication type:

Article

Acetazolamide for severe apnea in Pitt-Hopkins syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 932, doi. 10.1002/ajmg.a.35247

By:

Verhulst, Stijn L.;
De Dooy, J.;
Ramet, J.;
Bockaert, N.;
Van Coster, R.;
Ceulemans, B.;
De Backer, W.

Publication type:

Article

Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 894, doi. 10.1002/ajmg.a.35258

By:

Haddad, Véronique;
Aboura, Azzedine;
Tosca, Lucie;
Guediche, Narjes;
Mas, Anne-Elisabeth;
L'Herminé, Aurore Coulomb;
Druart, Luc;
Picone, Olivier;
Brisset, Sophie;
Tachdjian, Gérard

Publication type:

Article

Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 839, doi. 10.1002/ajmg.a.35229

By:

Butler, Matthew G.;
Dagenais, Susan L.;
Garcia-Perez, José L.;
Brouillard, Pascal;
Vikkula, Miikka;
Strouse, Peter;
Innis, Jeffrey W.;
Glover, Thomas W.

Publication type:

Article