Works matching IS 15524825 AND DT 2011 AND VI 155A AND IP 9

Results: 56

A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2224, doi. 10.1002/ajmg.a.34120

By:

Cyr, Andrew B.;
Nimmakayalu, Manjunath;
Longmuir, Susannah Q.;
Patil, Shivanand R.;
Keppler-Noreuil, Kim M.;
Shchelochkov, Oleg A.

Publication type:

Article

Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1-qter).

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2274, doi. 10.1002/ajmg.a.34160

By:

Mizuno, Seiji;
Fukushi, Daisuke;
Kimura, Reiko;
Yamada, Kenichiro;
Yamada, Yasukazu;
Kumagai, Toshiyuki;
Wakamatsu, Nobuaki

Publication type:

Article

Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2196, doi. 10.1002/ajmg.a.34131

By:

Digilio, Maria Cristina;
Bernardini, Laura;
Lepri, Francesca;
Giuffrida, Maria Grazia;
Guida, Valentina;
Baban, Anwar;
Versacci, Paolo;
Capolino, Rossella;
Torres, Barbara;
De Luca, Alessandro;
Novelli, Antonio;
Marino, Bruno;
Dallapiccola, Bruno

Publication type:

Article

Physical health problems in adults with Prader-Willi syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2112, doi. 10.1002/ajmg.a.34171

By:

Sinnema, Margje;
Maaskant, Marian A.;
van Schrojenstein Lantman-de Valk, Henny M.J.;
Caroline van Nieuwpoort, I.;
Drent, Madeleine L.;
Curfs, Leopold M.G.;
Schrander-Stumpel, Constance T.R.M.

Publication type:

Article

A new case of HDR syndrome with severe female genital tract malformation: Comment on 'Novel Mutation in the Gene Encoding the GATA3 Transcription Factor in a Spanish Familial Case of Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome With Female Genital Tract Malformations' by Hernández et al.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2329, doi. 10.1002/ajmg.a.34153

By:

Moldovan, Oana;
Carvalho, Raquel;
Jorge, Zulmira;
Medeira, Ana

Publication type:

Article

In this issue.

Published in:: 2011
Publication type:: Other

The clinical delineation of malformation syndromes: Historical prospective and future direction.

Published in:

2011

By:

Carey, John C.

Publication type:

Editorial

Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2125, doi. 10.1002/ajmg.a.34050

By:

Regalado, Ellen;
Medrek, Sarah;
Tran-Fadulu, Van;
Guo, Dong-Chuan;
Pannu, Hariyadarshi;
Golabbakhsh, Hossein;
Smart, Suzanne;
Chen, Julia H.;
Shete, Sanjay;
Kim, Dong H.;
Stern, Ralph;
Braverman, Alan C.;
Milewicz, Dianna M.

Publication type:

Article

Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2293, doi. 10.1002/ajmg.a.34164

By:

Shimojima, Keiko;
Okanishi, Tohru;
Yamamoto, Toshiyuki

Publication type:

Article

The Niemann-Pick C1 gene interacts with a high-fat diet and modifying genes to promote weight gain.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2317, doi. 10.1002/ajmg.a.34135

By:

Jelinek, David;
Heidenreich, Randall A.;
Garver, William S.

Publication type:

Article

Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression-targeted isoflavone therapy (GET IT).

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2257, doi. 10.1002/ajmg.a.34146

By:

Marucha, Jolanta;
Tylki-Szymańska, Anna;
Jakóbkiewicz-Banecka, Joanna;
Piotrowska, Ewa;
Kloska, Anna;
Czartoryska, Barbara;
Węgrzyn, Grzegorz

Publication type:

Article

Wilms tumor incidence in children with 2q terminal deletions: A cohort study.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2221, doi. 10.1002/ajmg.a.34117

By:

Jones, Elizabeth A.;
Stewart, Alison;
Stiller, Charles;
Douglas, Fiona;
Bown, Nick

Publication type:

Article

Automated syndrome detection in a set of clinical facial photographs.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2161, doi. 10.1002/ajmg.a.34157

By:

Boehringer, Stefan;
Guenther, Manuel;
Sinigerova, Stella;
Wurtz, Rolf P.;
Horsthemke, Bernhard;
Wieczorek, Dagmar

Publication type:

Article

Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS).

Published in:

2011

By:

Bree, Alanna F.;
Shah, Maulik R.

Publication type:

Other

Potential teratogenic effects of allopurinol: A case report.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2247, doi. 10.1002/ajmg.a.34139

By:

Kozenko, Mariya;
Grynspan, David;
Oluyomi-Obi, Titi;
Sitar, Daniel;
Elliott, Alison M.;
Chodirker, Bernard N.

Publication type:

Article

Table of Contents, Volume 155, Number 9, September 2011.

Published in:: 2011
Publication type:: Other

Maternal age and prevalence of isolated congenital heart defects in an urban area of the United States.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2137, doi. 10.1002/ajmg.a.34130

By:

Miller, Assia;
Riehle-Colarusso, Tiffany;
Siffel, Csaba;
Frías, Jaime L.;
Correa, Adolfo

Publication type:

Article

Different roles of two novel susceptibility loci for nonsyndromic orofacial clefts in a Chinese Han population.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2180, doi. 10.1002/ajmg.a.34170

By:

Pan, Yongchu;
Zhang, Weibing;
Du, Yifei;
Tong, Na;
Han, Yue;
Zhang, Hongchuang;
Wang, Meilin;
Ma, Junqing;
Wan, Linzhon;
Wang, Lin

Publication type:

Article

Chromosome 22q11.2 deletion syndrome in African-American patients: A diagnostic challenge.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2186, doi. 10.1002/ajmg.a.34226

By:

Veerapandiyan, Aravindhan;
Abdul-Rahman, Omar A.;
Adam, Margaret P.;
Lyons, Michael J.;
Manning, Melanie;
Coleman, Karlene;
Kobrynski, Lisa;
Taneja, Deeksha;
Schoch, Kelly;
Zimmerman, Holly H.;
Shashi, Vandana

Publication type:

Article

Heterozygous C-propeptide mutations in COL1A1: Osteogenesis imperfecta type IIC and dense bone variant.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2269, doi. 10.1002/ajmg.a.34152

By:

Takagi, Masaki;
Hori, Naoaki;
Chinen, Yasutsugu;
Kurosawa, Kenji;
Tanaka, Yukichi;
Oku, Kikuko;
Sakata, Hitomi;
Fukuzawa, Ryuji;
Nishimura, Gen;
Spranger, Jürgen;
Hasegawa, Tomonobu

Publication type:

Article

A majority of parents accept newborn screening for fragile X.

Published in:: 2011
Publication type:: Other

Catel-Manzke syndrome: A clinical report suggesting autosomal recessive inheritance.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2288, doi. 10.1002/ajmg.a.34163

By:

Kiper, Pelin Özlem Şimşek;
Utine, Gülen Eda;
Boduroğlu, Koray;
Alanay, Yasemin

Publication type:

Article

Screening for celiac disease in the joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2314, doi. 10.1002/ajmg.a.34134

By:

Danese, Chiara;
Castori, Marco;
Celletti, Claudia;
Amato, Silvia;
Lo Russo, Caterina;
Grammatico, Paola;
Camerota, Filippo

Publication type:

Article

Reproductive success in patients with Hallermann-Streiff syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2311, doi. 10.1002/ajmg.a.34042

By:

Numabe, Hironao;
Sawai, Hideaki;
Yamagata, Zentaro;
Muto, Kaori;
Kosaki, Rika;
Yuki, Kenya;
Kosaki, Kenjiro

Publication type:

Article

Adults with Sotos syndrome: Review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2105, doi. 10.1002/ajmg.a.34156

By:

Fickie, Matthew R.;
Lapunzina, Pablo;
Gentile, Jennifer K.;
Tolkoff-Rubin, Nina;
Kroshinsky, Daniela;
Galan, Enrique;
Gean, Esther;
Martorell, Loreto;
Romanelli, Valeria;
Toral, Joaquín Fernandez;
Lin, Angela E.

Publication type:

Article

Mosaic partial trisomy 19p12-q13.11 due to a small supernumerary marker chromosome: A locus associated with Asperger syndrome?

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2308, doi. 10.1002/ajmg.a.34196

By:

Faucz, Fabio Rueda;
Souza, Josiane;
Filho, Aguinaldo Bonalumi;
Sotomaior, Vanessa Santos;
Frantz, Egon;
Antoniuk, Sergio;
Rosenfeld, Jill A.;
Raskin, Salmo

Publication type:

Article

Features of basal cell carcinomas in basal cell nevus syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2098, doi. 10.1002/ajmg.a.34127

By:

Tom, Wynnis L.;
Hurley, M. Yadira;
Oliver, Dana S.;
Shah, Maulik R.;
Bree, Alanna F.

Publication type:

Article

Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2170, doi. 10.1002/ajmg.a.34167

By:

Weymouth, Katelyn S.;
Blanton, Susan H.;
Bamshad, Michael J.;
Beck, Anita E.;
Alvarez, Christine;
Richards, Steve;
Gurnett, Christina A.;
Dobbs, Matthew B.;
Barnes, Douglas;
Mitchell, Laura E.;
Hecht, Jacqueline T.

Publication type:

Article

The real tiger mother: From the clinical geneticist's perspective.

Published in:

2011

By:

Shur, Natasha

Publication type:

Other

Microcephaly-capillary malformation syndrome: A story of rapid emergence of a new recognizable entity.

Published in:

2011

By:

Carter, Melissa T.;
Boycott, Kym M.

Publication type:

Editorial

Furthering the link between the sarcomere and primary cardiomyopathies: Restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2229, doi. 10.1002/ajmg.a.34097

By:

Caleshu, Colleen;
Sakhuja, Rahul;
Nussbaum, Robert L.;
Schiller, Nelson B.;
Ursell, Philip C.;
Eng, Celeste;
De Marco, Teresa;
McGlothlin, Dana;
Burchard, Esteban González;
Rame, J. Eduardo

Publication type:

Article

Possible case of sirenomelia in the Tumaco-Tolita pottery pre-Columbian culture, 2000 years before the epidemic focus of sirenomelia in Cali-Colombia.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2327, doi. 10.1002/ajmg.a.32923

By:

Pachajoa, Harry;
Rodriguez, Carlos

Publication type:

Article

Monozygotic twin discordance for phacomatosis cesioflammea further supports the post-zygotic mutation hypothesis.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2253, doi. 10.1002/ajmg.a.34140

By:

Castori, Marco;
Sarazani, Stefano;
Binni, Francesco;
Pezzella, Francesca Romana;
Cruciani, Giovanni;
Grammatico, Paola

Publication type:

Article

Response to Kouwenberg et al. 'Recognizable Phenotype With Common Occurrence of Microcephaly, Psychomotor Retardation, But No Spontaneous Bone Fractures in ARCL2B Due to PYCR1 Mutations'.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2333, doi. 10.1002/ajmg.a.34151

By:

Tüysüz, Beyhan;
Tolun, Aslıhan;
Yıldırım, Yeşerin

Publication type:

Article

State administrative data can aid long-term newborn follow-up, researchers report.

Published in:: 2011
Publication type:: Other

Subtelomeric monosomy 11q and trisomy 16q in siblings and an unrelated child: Molecular characterization of two der(11)t(11;16).

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2281, doi. 10.1002/ajmg.a.34162

By:

Basinko, Audrey;
Audebert-Bellanger, Séverine;
Douet-Guilbert, Nathalie;
Le Franc, Jérémie;
Parent, Philippe;
Quemener, Sylvia;
La Selve, Philippe;
Bovo, Clément;
Morel, Frédéric;
Le Bris, Marie-Josée;
De Braekeleer, Marc

Publication type:

Article

Conflicts regarding genetic counseling for fragile X syndrome screening: A survey of clinical geneticists and genetic counselors in Israel.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2154, doi. 10.1002/ajmg.a.34155

By:

Lieberman, Sari;
Zuckerman, Shachar;
Levy-Lahad, Ephrat;
Altarescu, Gheona

Publication type:

Article

Branchial arch defects and 19p13.12 microdeletion: Defining the critical region into a 0.8 M base interval.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2212, doi. 10.1002/ajmg.a.33908

By:

Kosaki, Kenjiro;
Saito, Hideyuki;
Kosaki, Rika;
Torii, Chiharu;
Kishi, Kazuo;
Takahashi, Takao

Publication type:

Article

Mild Tessier No. 7 cleft with PHACE syndrome: The case for pulmonary vascular steal.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2298, doi. 10.1002/ajmg.a.34166

By:

Bajaj, Amit;
Dyke, Peter;
Zaleski, Christina;
Cava, Joseph;
McPherson, Elizabeth

Publication type:

Article

Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2146, doi. 10.1002/ajmg.a.34137

By:

Dukes-Rimsky, Lynn;
Guzauskas, Gregory F.;
Holden, Kenton R.;
Griggs, Rachel;
Ladd, Sydney;
del Carmen Montoya, Maria;
DuPont, Barbara R.;
Srivastava, Anand K.

Publication type:

Article

Clinical pre- and postnatal (step-by-step) history of a boy with unbalanced translocation-t(3;15)(q26.33;q26.1).

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2320, doi. 10.1002/ajmg.a.34148

By:

Maria, Constantinou;
Krzysztof, Piotrowski;
Stanisław, Zajączek;
Bogdan, Kałużewski

Publication type:

Article

A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability.

Published in:

2011

By:

Tyshchenko, N.;
Neuhann, T.M.;
Gerlach, E.;
Hahn, G.;
Heisch, K.;
Rump, A.;
Schrock, E.;
Tinschert, S.;
Hackmann, K.

Publication type:

Other

Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2263, doi. 10.1002/ajmg.a.34150

By:

Gripp, Karen W.;
Stabley, Deborah L.;
Geller, Peter L.;
Hopkins, Elizabeth;
Stevenson, David A.;
Carey, John C.;
Sol-Church, Katia

Publication type:

Article

Limb-body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies?

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2045, doi. 10.1002/ajmg.a.34161

By:

Hunter, Alasdair G.W.;
Seaver, Laurie H.;
Stevenson, Roger E.

Publication type:

Article

Familial cardiac valvulopathy due to filamin A mutation.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2236, doi. 10.1002/ajmg.a.34132

By:

Bernstein, Jonathan A.;
Bernstein, Daniel;
Hehr, Ute;
Hudgins, Louanne

Publication type:

Article

Editorial comment on 'Whole Exome Sequencing Identifies Compound Heterozygous Mutations in WDR62 in Siblings With Recurrent Polymicrogyria'.

Published in:

2011

By:

Biesecker, Leslie G.

Publication type:

Editorial

Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2331, doi. 10.1002/ajmg.a.34154

By:

Kouwenberg, Dorus;
Gardeitchik, Thatjana;
Wevers, Ron A;
Häberle, Johannes;
Morava, Eva

Publication type:

Article

Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2131, doi. 10.1002/ajmg.a.34125

By:

Shen, Wenjing;
Han, Dong;
Zhang, Jin;
Zhao, Hongshan;
Feng, Hailan

Publication type:

Article

Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2071, doi. 10.1002/ajmg.a.34165

By:

Murdock, David R.;
Clark, Gary D.;
Bainbridge, Matthew N.;
Newsham, Irene;
Wu, Yuan-Qing;
Muzny, Donna M.;
Cheung, Sau Wai;
Gibbs, Richard A.;
Ramocki, Melissa B.

Publication type:

Article

American Journal of Medical Genetics Part A: Volume 155, Number 9, September 2011.

Published in:: 2011
Publication type:: Other