Works matching IS 15524825 AND DT 2013 AND VI 161A AND IP 12

Results: 45

Management of hypogonadism in adolescent girls and adult women with Prader-Willi syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3030, doi. 10.1002/ajmg.a.36152

By:

Eldar‐Geva, Talia;
Hirsch, Harry J.;
Pollak, Yehuda;
Benarroch, Fortu;
Gross‐Tsur, Varda

Publication type:

Article

Multidisciplinary treatment of disability in ehlers-danlos syndrome hypermobility type/hypermobility syndrome: A pilot study using a combination of physical and cognitive-behavioral therapy on 12 women.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3005, doi. 10.1002/ajmg.a.36060

By:

Bathen, Trine;
Hångmann, Anett Bjørnødegård;
Hoff, Marie;
Andersen, Liv Øinæs;
Rand‐Hendriksen, Svend

Publication type:

Article

FOXP1 mutations cause intellectual disability and a recognizable phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3166, doi. 10.1002/ajmg.a.36174

By:

Le Fevre, Anna K.;
Taylor, Sharelle;
Malek, Neva H.;
Horn, Denise;
Carr, Christopher W.;
Abdul‐Rahman, Omar A.;
O'Donnell, Sherindan;
Burgess, Trent;
Shaw, Marie;
Gecz, Jozef;
Bain, Nicole;
Fagan, Kerry;
Hunter, Matthew F.

Publication type:

Article

Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3049, doi. 10.1002/ajmg.a.36156

By:

Eto, Kaoru;
Sakai, Norio;
Shimada, Shino;
Shioda, Mutsuki;
Ishigaki, Keiko;
Hamada, Yusuke;
Shinpo, Michiko;
Azuma, Junji;
Tominaga, Koji;
Shimojima, Keiko;
Ozono, Keiichi;
Osawa, Makiko;
Yamamoto, Toshiyuki

Publication type:

Article

The society of craniofacial genetics and developmental biology 35th annual meeting.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 2938, doi. 10.1002/ajmg.a.36053

By:

Klein, Ophir D.;
Bush, Jeffrey O.;
Knox, Sarah M.;
Jheon, Andrew H.;
Cordero, Dwight R.;
Richtsmeier, Joan T.

Publication type:

Article

Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 2953, doi. 10.1002/ajmg.a.35886

By:

Peddibhotla, Sirisha;
Khalifa, Mohamed;
Probst, Frank J.;
Stein, Jennifer;
Harris, Leslie L.;
Kearney, Debra L.;
Vance, Gail H.;
Bull, Marilyn J.;
Grange, Dorothy K.;
Scharer, Gunter H.;
Kang, Sue‐Hae L.;
Stankiewicz, Pawel;
Bacino, Carlos A.;
Cheung, Sau W.;
Patel, Ankita

Publication type:

Article

Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3182, doi. 10.1002/ajmg.a.36178

By:

Vatta, Matteo;
Niu, Zhiyv;
Lupski, James R.;
Putnam, Philip;
Spoonamore, Katherine G.;
Fang, Ping;
Eng, Christine M.;
Willis, Alecia S.

Publication type:

Article

Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3137, doi. 10.1002/ajmg.a.36149

By:

Izumi, Kosuke;
Housam, Ryan;
Kapadia, Chirag;
Stallings, Virginia A.;
Medne, Livija;
Shaikh, Tamim H.;
Kublaoui, Bassil M.;
Zackai, Elaine H.;
Grimberg, Adda

Publication type:

Article

A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3121, doi. 10.1002/ajmg.a.36086

By:

Villarreal, Diana D.;
Villarreal, Humberto;
Paez, Ana Maria;
Peppas, Dennis;
Lynch, Jane;
Roeder, Elizabeth;
Powers, George C.

Publication type:

Article

High-resolution analysis of copy number variants in adults with simple-to-moderate congenital heart disease.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3087, doi. 10.1002/ajmg.a.36177

By:

Zhao, Wei;
Niu, Guannan;
Shen, Botao;
Zheng, Yang;
Gong, Fangchao;
Wang, Xianfu;
Lee, Jiyun;
Mulvihill, John J.;
Chen, Xiaohui;
Li, Shibo

Publication type:

Article

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3063, doi. 10.1002/ajmg.a.36162

By:

Lesca, Gaetan;
Moizard, Marie‐Pierre;
Bussy, Gerald;
Boggio, Dominique;
Hu, Hao;
Haas, Stefan A.;
Ropers, Hans‐Hilger;
Kalscheuer, Vera M.;
Des Portes, Vincent;
Labalme, Audrey;
Sanlaville, Damien;
Edery, Patrick;
Raynaud, Martine;
Lespinasse, James

Publication type:

Article

Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3161, doi. 10.1002/ajmg.a.36173

By:

Dikoglu, Esra;
Simsek‐Kiper, Pelin Ozlem;
Utine, Gulen Eda;
Campos‐Xavier, Belinda;
Boduroglu, Koray;
Bonafé, Luisa;
Superti‐Furga, Andrea;
Unger, Sheila

Publication type:

Article

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 2972, doi. 10.1002/ajmg.a.36229

By:

Tatton‐Brown, Katrina;
Murray, Anne;
Hanks, Sandra;
Douglas, Jenny;
Armstrong, Ruth;
Banka, Siddharth;
Bird, Lynne M.;
Clericuzio, Carol L.;
Cormier‐Daire, Valerie;
Cushing, Tom;
Flinter, Frances;
Jacquemont, Marie‐Line;
Joss, Shelagh;
Kinning, Esther;
Lynch, Sally Ann;
Magee, Alex;
McConnell, Vivienne;
Medeira, Ana;
Ozono, Keiichi;
Patton, Michael

Publication type:

Article

Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3144, doi. 10.1002/ajmg.a.36155

By:

Hackmann, Karl;
Stadler, Anja;
Schallner, Jens;
Franke, Kathlen;
Gerlach, Eva‐Maria;
Schrock, Evelin;
Rump, Andreas;
Fauth, Christine;
Tinschert, Sigrid;
Oexle, Konrad

Publication type:

Article

The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3023, doi. 10.1002/ajmg.a.36151

By:

Mehawej, Cybel;
Courcet, Jean‐Benoît;
Baujat, Geneviève;
Mouy, Richard;
Gérard, Marion;
Landru, Isabelle;
Gosselin, Morgane;
Koehrer, Philippe;
Mousson, Christiane;
Breton, Sylvain;
Quartier, Pierre;
Le Merrer, Martine;
Faivre, Laurence;
Cormier‐Daire, Valérie

Publication type:

Article

JAG1 Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3133, doi. 10.1002/ajmg.a.36148

By:

Digilio, Maria Cristina;
Luca, Alessandro De;
Lepri, Francesca;
Guida, Valentina;
Ferese, Rosangela;
Dentici, Maria Lisa;
Angioni, Adriano;
Marino, Bruno;
Dallapiccola, Bruno

Publication type:

Article

Embryonic left-right separation mechanism allows confinement of mutation-induced phenotypes to one lateral body half of bilaterians.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3095, doi. 10.1002/ajmg.a.36188

By:

Ma, Kun

Publication type:

Article

Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3012, doi. 10.1002/ajmg.a.36119

By:

Schanze, Denny;
Harakalova, Magdalena;
Stevens, Cathy A.;
Brancati, Francesco;
Dallapiccola, Bruno;
Farndon, Peter;
Ferraz, Victor E. F.;
McDonald‐McGinn, Donna M.;
Zackai, Elaine H.;
Wright, Michael;
van Lieshout, Stef;
Vogel, Maartje J.;
van Haelst, Mieke M.;
Zenker, Martin

Publication type:

Article

Congenital heart defects in oculodentodigital dysplasia: Report of two cases.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3150, doi. 10.1002/ajmg.a.36159

By:

Izumi, Kosuke;
Lippa, Andrew M.;
Wilkens, Alisha;
Feret, Holly A.;
McDonald‐McGinn, Donna M.;
Zackai, Elaine H.

Publication type:

Article

Ehlers-Danlos syndrome, hypermobility type: A characterization of the patients' lived experience.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 2981, doi. 10.1002/ajmg.a.36293

By:

Murray, Brittney;
Yashar, Beverly M.;
Uhlmann, Wendy R.;
Clauw, Daniel J.;
Petty, Elizabeth M.

Publication type:

Article

Partial trisomy 15q23 and partial monosomy 5p15.32: Case report and a literature review.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3201, doi. 10.1002/ajmg.a.36150

By:

Puvabanditsin, Surasak;
Khan, Imteyaz;
Garrow, Eugene;
Botti, Christina;
Lambert, George;
Quan, Michelle

Publication type:

Article

A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3191, doi. 10.1002/ajmg.a.36190

By:

Rasmussen, Maria;
Ramsing, Mette;
Petersen, Olav Bjørn;
Vogel, Ida;
Sunde, Lone

Publication type:

Article

More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3126, doi. 10.1002/ajmg.a.36161

By:

Pimienta, Allen L.;
Wilcox, William R.;
Reinstein, Eyal

Publication type:

Article

Next-generation sequencing may reduce cost and wait time for some genetic diagnoses: Experts argue that clinical evaluation remains crucial.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. vii, doi. 10.1002/ajmg.a.36349

By:

Levenson, Deborah

Publication type:

Article

Neuromotor synapses in Escobar syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3042, doi. 10.1002/ajmg.a.36154

By:

Robinson, Karyn G.;
Viereck, Matthew J.;
Margiotta, Megan V.;
Gripp, Karen W.;
Abdul‐Rahman, Omar A.;
Akins, Robert E.

Publication type:

Article

Isolated truncus arteriosus associated with a mutation in the plexin-D1 gene.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3115, doi. 10.1002/ajmg.a.36194

By:

Ta‐Shma, Asaf;
Pierri, Ciro Leonardo;
Stepensky, Polina;
Shaag, Avraham;
Zenvirt, Shamir;
Elpeleg, Orly;
Rein, Azaria J.J.T.

Publication type:

Article

Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3176, doi. 10.1002/ajmg.a.36176

By:

Blassnig‐Ezeh, Anya;
Bandelier, Claude;
Frühmesser, Anne;
Revencu, Nicole;
Krabichler, Birgit;
Beauloye, Véronique;
Ravoet, Marie;
Fauth, Christine;
Zschocke, Johannes;
Simma, Burkhard;
Kotzot, Dieter

Publication type:

Article

Similarity of geleophysic dysplasia and weill-marchesani syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3130, doi. 10.1002/ajmg.a.36147

By:

Kochhar, Aaina;
Kirmani, Salman;
Cetta, Frank;
Younge, Brian;
Hyland, James C.;
Michels, Virginia

Publication type:

Article

'Whorl patterns on the lower lip are associated with nonsyndromic cleft lip with or without cleft palate' American Journal of Medical Genetics Part A, Volume 149A, Issue 12, pages 2673-2679, December 2009.

Published in:: American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3216, doi. 10.1002/ajmg.a.36158
Publication type:: Article

In this issue.

Published in:: American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. x, doi. 10.1002/ajmg.a.36351
Publication type:: Article

Table of Contents, Volume 161A, Number 12, December 2013.

Published in:: American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. fm i, doi. 10.1002/ajmg.a.36384
Publication type:: Article

Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 2989, doi. 10.1002/ajmg.a.36315

By:

Castori, Marco;
Morlino, Silvia;
Celletti, Claudia;
Ghibellini, Giulia;
Bruschini, Michela;
Grammatico, Paola;
Blundo, Carlo;
Camerota, Filippo

Publication type:

Article

Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3155, doi. 10.1002/ajmg.a.36160

By:

Ababneh, Farouq K.;
AlSwaid, Abdulrahman;
Youssef, Talaat;
Al Azzawi, Manaf;
Crosby, Andrew;
AlBalwi, Mohammed A.

Publication type:

Article

Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 2964, doi. 10.1002/ajmg.a.36245

By:

Brinckman, Danielle D.;
Keppler‐Noreuil, Kim M.;
Blumhorst, Catherine;
Biesecker, Leslie G.;
Sapp, Julie C.;
Johnston, Jennifer J.;
Wiggs, Edythe A.

Publication type:

Article

Non-immune hydrops fetalis: A prospective study of 53 cases.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3078, doi. 10.1002/ajmg.a.36171

By:

Moreno, Carolina A.;
Kanazawa, Thatiane;
Barini, Ricardo;
Nomura, Marcelo L.;
Andrade, Kléber C.;
Gomes, Cristiane P.;
Heinrich, Juliana K.;
Giugliani, Roberto;
Burin, Maira;
Cavalcanti, Denise P.

Publication type:

Article

3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3018, doi. 10.1002/ajmg.a.36142

By:

Città, Santina;
Buono, Serafino;
Greco, Donatella;
Barone, Concetta;
Alfei, Enrico;
Bulgheroni, Sara;
Usilla, Arianna;
Pantaleoni, Chiara;
Romano, Corrado

Publication type:

Article

Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3187, doi. 10.1002/ajmg.a.36182

By:

Bettinelli, Audra L.;
Mulder, Theodorus J.;
Funke, Birgit H.;
Lafferty, Katherine A.;
Longo, Sherri A.;
Niyazov, Dmitriy M.

Publication type:

Article

Polysomnographic findings in infantile Pompe disease.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3196, doi. 10.1002/ajmg.a.36227

By:

Kansagra, Sujay;
Austin, Stephanie;
DeArmey, Stephanie;
Kishnani, Priya S.;
Kravitz, Richard M.

Publication type:

Article

De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3035, doi. 10.1002/ajmg.a.36153

By:

Dworschak, Gabriel C.;
Draaken, Markus;
Marcelis, Carlo;
de Blaauw, Ivo;
Pfundt, Rolph;
van Rooij, Iris A.L.M.;
Bartels, Enrika;
Hilger, Alina;
Jenetzky, Ekkehart;
Schmiedeke, Eberhard;
Grasshoff‐Derr, Sabine;
Schmidt, Dominik;
Märzheuser, Stefanie;
Hosie, Stuart;
Weih, Sandra;
Holland‐Cunz, Stefan;
Palta, Markus;
Leonhardt, Johannes;
Schäfer, Mattias;
Kujath, Christina

Publication type:

Article

Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3057, doi. 10.1002/ajmg.a.36157

By:

Takenouchi, Toshiki;
Hida, Mariko;
Sakamoto, Yoshiaki;
Torii, Chiharu;
Kosaki, Rika;
Takahashi, Takao;
Kosaki, Kenjiro

Publication type:

Article

States stress newborn screening for home births: Initiatives emphasize education about the importance of bloodspot tests, hearing screens.

Published in:: American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. viii, doi. 10.1002/ajmg.a.36350
Publication type:: Article

American Journal of Medical Genetics Part A: Volume 161A, Number 12, December 2013.

Published in:: American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. C1, doi. 10.1002/ajmg.a.36383
Publication type:: Article

Pediatric glaucoma terminology.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3205, doi. 10.1002/ajmg.a.35205

By:

Ganesh, Anuradha;
Mai, Dang Tam;
Levin, Alex V.

Publication type:

Article

Dysregulation of FOXG1 pathway in a 14q12 microdeletion case.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3072, doi. 10.1002/ajmg.a.36170

By:

Perche, Olivier;
Haddad, Georges;
Menuet, Arnaud;
Callier, Patrick;
Marcos, Mélanie;
Briault, Sylvain;
Laudier, Béatrice

Publication type:

Article

The AKT genes and their roles in various disorders.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 2931, doi. 10.1002/ajmg.a.36101

By:

Cohen, M. Michael

Publication type:

Article