Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE) (English)
- New search for: Bi, Weimin
- New search for: Glass, Ian A.
- New search for: Muzny, Donna M.
- New search for: Gibbs, Richard A.
- New search for: Eng, Christine M.
- New search for: Yang, Yaping
- New search for: Sun, Angela
- New search for: Bi, Weimin
- New search for: Glass, Ian A.
- New search for: Muzny, Donna M.
- New search for: Gibbs, Richard A.
- New search for: Eng, Christine M.
- New search for: Yang, Yaping
- New search for: Sun, Angela
In:
American Journal of Medical Genetics Part A
;
170
, 8
;
2181-2185
;
2016
- Article (Journal) / Electronic Resource
-
Title:Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE)
-
Contributors:Bi, Weimin ( author ) / Glass, Ian A. ( author ) / Muzny, Donna M. ( author ) / Gibbs, Richard A. ( author ) / Eng, Christine M. ( author ) / Yang, Yaping ( author ) / Sun, Angela ( author )
-
Published in:American Journal of Medical Genetics Part A ; 170, 8 ; 2181-2185
-
Publisher:
-
Publication date:2016-08-01
-
Size:5 pages
-
ISSN:
-
DOI:
-
Type of media:Article (Journal)
-
Type of material:Electronic Resource
-
Language:English
-
Keywords:
-
Source:
Table of contents – Volume 170, Issue 8
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 1949
-
Table of Contents, Volume 170A, Number 8, August 2016| 2016
- 1953
-
Publication schedule for 2016| 2016
- 1954
-
Facial malformation atlas aims to aid diagnosis of genetic disorders in patients of non‐European descent| 2016
- 1955
-
Gene therapy for severe combined immune deficiency poised for European approval| 2016
- 1957
-
In this issue| 2016
- 1959
-
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathwayStevenson, David A. / Schill, Lisa / Schoyer, Lisa / Andresen, Brage S. / Bakker, Annette / Bayrak‐Toydemir, Pinar / Burkitt‐Wright, Emma / Chatfield, Kathryn / Elefteriou, Florent / Elgersma, Ype et al. | 2016
- 1967
-
SMARCE1, a rare cause of Coffin–Siris Syndrome: Clinical description of three additional casesZarate, Yuri A. / Bhoj, Elizabeth / Kaylor, Julie / Li, Dong / Tsurusaki, Yoshinori / Miyake, Noriko / Matsumoto, Naomichi / Phadke, Shubha / Escobar, Luis / Irani, Afifa et al. | 2016
- 1974
-
Behavioral functioning in cardiofaciocutaneous syndrome: Risk factors and impact on parenting experiencePierpont, Elizabeth I. / Wolford, Melinda et al. | 2016
- 1989
-
Barber–Say syndrome and Ablepharon–Macrostomia syndrome: An overviewDe Maria, Beatrice / Mazzanti, Laura / Roche, Nathalie / Hennekam, Raoul C. et al. | 2016
- 2002
-
A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathyFahrner, Jill A. / Liu, Raymond / Perry, Michael Scott / Klein, Jessica / Chan, David C. et al. | 2016
- 2012
-
Quality of life in adolescents and adults with CHARGE syndromeHartshorne, Nancy / Hudson, Alexandra / MacCuspie, Jillian / Kennert, Benjamin / Nacarato, Tasha / Hartshorne, Timothy / Blake, Kim et al. | 2016
- 2022
-
Influence of hearing loss and cognitive abilities on language development in CHARGE SyndromeVesseur, Annemarie / Langereis, Margreet / Free, Rolien / Snik, Ad / van Ravenswaaij‐Arts, Conny / Mylanus, Emmanuel et al. | 2016
- 2031
-
Further delineation of FKBP14‐related Ehlers–Danlos syndrome: A patient with early vascular complications and non‐progressive kyphoscoliosis, and literature reviewDordoni, Chiara / Ciaccio, Claudia / Venturini, Marina / Calzavara‐Pinton, Piergiacomo / Ritelli, Marco / Colombi, Marina et al. | 2016
- 2039
-
Achondroplasia: Really rhizomelic?Shelmerdine, Susan Cheng / Brittain, Helen / Arthurs, Owen J. / Calder, Alistair D. et al. | 2016
- 2044
-
Quality of life, unmet needs, and iatrogenic injuries in rehabilitation of patients with Ehlers–Danlos Syndrome hypermobility type/Joint Hypermobility SyndromeBovet, Claire / Carlson, Matthew / Taylor, Matthew et al. | 2016
- 2052
-
“I'm Healthy, It's Not Going To Be Me”: Exploring experiences of carriers identified through a population reproductive genetic carrier screening panel in AustraliaBeard, Catherine A. / Amor, David J. / Di Pietro, Louisa / Archibald, Alison D. et al. | 2016
- 2060
-
Altered cerebrospinal fluid proteins in Smith–Lemli–Opitz syndrome patientsCologna, Stephanie M. / Shieh, Christine / Toth, Cynthia L. / Cougnoux, Antony / Burkert, Kathryn R. / Bianconi, Simona E. / Wassif, Christopher A. / Porter, Forbes D. et al. | 2016
- 2069
-
Physical measurements of Chinese children in Hong Kong—A pilot study in preschools and kindergartensMok, Gary T. K. / Chan, Sharon S. / Chu, Yoyo W. Y. / Chan, Sau Man / Wong, Wilfred H. S. / Chung, Brian H. Y. et al. | 2016
- 2078
-
Gastroschisis and maternal intake of phytoestrogensWadhwa, Elizabeth L. / Ma, Chen / Shaw, Gary M. / Carmichael, Suzan L. / and the National Birth Defects Prevention Study et al. | 2016
- 2083
-
Adolescents’ preferences regarding disclosure of incidental findings in genomic sequencing that are not medically actionable in childhoodHufnagel, Sophia B. / Martin, Lisa J. / Cassedy, Amy / Hopkin, Robert J. / Antommaria, Armand H. Matheny et al. | 2016
- 2089
-
A de novo microtriplication at 4q21.21‐q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speechLebedev, Igor N. / Nazarenko, Lyudmila P. / Skryabin, Nikolay A. / Babushkina, Nadezhda P. / Kashevarova, Anna A. et al. | 2016
- 2097
-
Higher plasma orexin A levels in children with Prader–Willi syndrome compared with healthy unrelated sibling controlsManzardo, Ann M. / Johnson, Lisa / Miller, Jennifer L. / Driscoll, Daniel J. / Butler, Merlin G. et al. | 2016
- 2103
-
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndromeMasurel‐Paulet, Alice / Piton, Amélie / Chancenotte, Sophie / Redin, Claire / Thauvin‐Robinet, Christel / Henrenger, Yvan / Minot, Delphine / Creppy, Audrey / Ruffier‐Bourdet, Marie / Thevenon, Julien et al. | 2016
- 2111
-
A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP geneAkawi, Nadia / Ben‐Salem, Salma / Lahti, Laura / Partanen, Juha / Ali, Bassam R. / Al‐Gazali, Lihadh et al. | 2016
- 2119
-
Is the diagnostic yield influenced by the indication for fetal autopsy?Puri, Ratna Dua / Kotecha, Udhaya / Lall, Meena / Dash, Pratima / Bijarnia‐Mahay, Sunita / Verma, Ishwar Chander et al. | 2016
- 2127
-
Microcephalic primordial dwarfism in an Emirati patient with PNKP mutationNair, Pratibha / Hamzeh, Abdul Rezzak / Mohamed, Madiha / Saif, Fatima / Tawfiq, Nafisa / El Halik, Majdi / Al‐Ali, Mahmoud Taleb / Bastaki, Fatma et al. | 2016
- 2133
-
Molecular and phenotypic spectrum of ASPM‐related primary microcephaly: Identification of eight novel mutationsAbdel‐Hamid, Mohamed S. / Ismail, Manal F. / Darwish, Hebatallh A. / Effat, Laila K. / Zaki, Maha S. / Abdel‐Salam, Ghada M. H. et al. | 2016
- 2141
-
Etiologies of uterine malformationsJacquinet, Adeline / Millar, Debra / Lehman, Anna et al. | 2016
- 2173
-
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophyReinson, Karit / Õiglane‐Shlik, Eve / Talvik, Inga / Vaher, Ulvi / Õunapuu, Anne / Ennok, Margus / Teek, Rita / Pajusalu, Sander / Murumets, Ülle / Tomberg, Tiiu et al. | 2016
- 2177
-
Pregnancy after aortic root replacement in Loeys–Dietz syndrome: High risk of aortic dissectionBraverman, Alan C. / Moon, Marc R. / Geraghty, Patrick / Willing, Marcia / Bach, Christopher / Kouchoukos, Nicholas T. et al. | 2016
- 2181
-
Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE)Bi, Weimin / Glass, Ian A. / Muzny, Donna M. / Gibbs, Richard A. / Eng, Christine M. / Yang, Yaping / Sun, Angela et al. | 2016
- 2186
-
Ebstein anomaly, left ventricular non‐compaction, and early onset heart failure associated with a de novo α‐tropomyosin gene mutationKelle, Angela M. / Bentley, S. Jared / Rohena, Luis O. / Cabalka, Allison K. / Olson, Timothy M. et al. | 2016
- 2191
-
Temporomandibular joint ankylosis as part of the clinical spectrum of Carey–Fineman–Ziter syndrome?Pasetti, Martina / Mazzoleni, Fabio / Novelli, Giorgio / Iascone, Maria / Bozzetti, Alberto / Selicorni, Angelo et al. | 2016
- 2196
-
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencingMozzillo, Enza / Cozzolino, Carla / Genesio, Rita / Melis, Daniela / Frisso, Giulia / Orrico, Ada / Lombardo, Barbara / Fattorusso, Valentina / Discepolo, Valentina / Della Casa, Roberto et al. | 2016
- 2200
-
GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome‐like phenotypeLee, Jin Sook / Yoo, Yongjin / Lim, Byung Chan / Kim, Ki Joong / Song, Junghan / Choi, Murim / Chae, Jong‐Hee et al. | 2016
- 2206
-
CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalitiesLeduc, Magalie S. / Niu, Zhiyv / Bi, Weimin / Zhu, Wenmiao / Miloslavskaya, Irene / Chiang, Theodore / Streff, Haley / Seavitt, John R. / Murray, Stephen A. / Eng, Christine et al. | 2016
- 2212
-
Distinctive skeletal phenotype in high bone mass osteogenesis imperfecta due to a COL1A2 cleavage site mutationNishimura, Gen / Nakajima, Masahiro / Takikawa, Kazuharu / Haga, Nobuhiko / Ikegawa, Shiro et al. | 2016
- 2215
-
First clinical report of an infant with microcephaly and CASC5 mutationsZarate, Yuri A. / Kaylor, Julie A. / Bosanko, Katherine / Lau, Sarah / Vargas, Jose / Gao, Hanlin et al. | 2016
- 2219
-
Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathySeidahmed, Mohammed Zain / Salih, Mustafa A. / Abdelbasit, Omer Bashir / Alassiri, Ali H. / Hussein, Khalid Al / Miqdad, Abeer / Samadi, Abdelmohsin / Rasheed, Abdallah Al / Alorainy, Ibrahim A. / Shaheen, Ranad et al. | 2016
- 2222
-
Hartsfield syndrome associated with a novel heterozygous missense mutation in FGFR1 and incorporating tumoral calcinosisPrasad, Rathi / Brewer, Carole / Burren, Christine P. et al. | 2016
- i
-
Cover Image, Volume 170A, Number 8, August 2016Akawi, Nadia / Ben‐Salem, Salma / Lahti, Laura / Partanen, Juha / Ali, Bassam R. / Al‐Gazali, Lihadh et al. | 2016