Works matching IS 15524825 AND DT 2019 AND VI 179 AND IP 8

Results: 47

In This Issue.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1411, doi. 10.1002/ajmg.a.61279
Publication type:: Article

New Causal Candidate Genes and Enhancers Linked to Orofacial Clefting Identified.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1409, doi. 10.1002/ajmg.a.61278
Publication type:: Article

Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1628, doi. 10.1002/ajmg.a.61261

By:

Suzuki, Hisato;
Takenouchi, Toshiki;
Uehara, Tomoko;
Takasago, Satoshi;
Ihara, Satoshi;
Yoshihashi, Hiroshi;
Kosaki, Kenjiro

Publication type:

Article

Cover Image, Volume 179A, Number 8, August 2019.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. N.PAG, doi. 10.1002/ajmg.a.61277
Publication type:: Article

Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1547, doi. 10.1002/ajmg.a.61260

By:

Kariminejad, Ariana;
Vahidnezhad, Hassan;
Ghaderi‐Sohi, Siavash;
Ghannadan, Ali R.;
Youssefian, Leila;
Parsimehr, Elham;
Faraji Zonooz, Mehrshid;
Kariminejad, Mohammad H.;
Uitto, Jouni;
Najmabadi, Hossein;
Hennekam, Raoul C.

Publication type:

Article

Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1652, doi. 10.1002/ajmg.a.61264

By:

Vos, Ivo J. H. M.;
Wong, Arnette Shi Wei;
Welting, Tim J. M.;
Coull, Barry J.;
Steensel, Maurice A. M.

Publication type:

Article

Birth seasonality studies in a large Prader–Willi syndrome cohort.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1531, doi. 10.1002/ajmg.a.61263

By:

Butler, Merlin G.;
Kimonis, Virginia;
Dykens, Elisabeth;
Gold, June Anne;
Tamura, Roy;
Miller, Jennifer L.;
Driscoll, Daniel J.

Publication type:

Article

Expanding the phenotypic spectrum associated with DPF2: A new case report.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1637, doi. 10.1002/ajmg.a.61262

By:

Knapp, Karen M;
Poke, Gemma;
Jenkins, Danielle;
Truter, Werner;
Bicknell, Louise S.

Publication type:

Article

Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1543, doi. 10.1002/ajmg.a.61266

By:

Carter, Lauren B.;
Battaglia, Agatino;
Cherry, Athena;
Manning, Melanie A.;
Ruzhnikov, Maura RZ;
Bird, Lynne M.;
Dowsett, Leah;
Graham, John M.;
Alkuraya, Fowzan S.;
Hashem, Mais;
Dinulos, Mary Beth;
Vallee, Stephanie;
Adam, Margaret P.;
Glass, Ian;
Beck, Anita E.;
Stevens, Cathy A.;
Zackai, Elaine;
McDougall, Carey;
Keena, Beth;
Peron, Angela

Publication type:

Article

Maternal nutrient intake and fetal gastroschisis: A case‐control study.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1535, doi. 10.1002/ajmg.a.61265

By:

Centofanti, Sandra F.;
Francisco, Rossana P. V.;
Phillippi, Sonia T.;
Galletta, Marco A. K.;
Sousa, Ana M. S.;
Rodrigues, Agatha S.;
Curi, Rui;
Brizot, Maria L.

Publication type:

Article

Skin picking disorder in 97 Italian and Spanish Cri du chat patients.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1525, doi. 10.1002/ajmg.a.61259

By:

Spunton, Marianna;
Guala, Andrea;
Liverani, Maria E.;
Medolago, Luisa;
Tognon, Fabio;
Casado, Félix;
Valle, Marta;
Porras, Josefina;
Larrea, Isabel;
Porta, Giovanni;
Albani, Giovanni;
Nevado, Julian;
Danesino, Cesare

Publication type:

Article

Gastrointestinal disorders in Down syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1426, doi. 10.1002/ajmg.a.61258

By:

Bermudez, Beatriz E. B. V.;
Oliveira, Camila M.;
Lima Cat, Mônica N.;
Magdalena, Neiva I. R.;
Celli, Adriane

Publication type:

Article

Cytogenetic profile of patients with clinical spectrum of ambiguous genitalia, amenorrhea, and Turner phenotype: A 21‐year single‐center experience.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1516, doi. 10.1002/ajmg.a.61257

By:

Elkarhat, Zouhair;
Belkady, Boutaina;
Charoute, Hicham;
Zarouf, Latifa;
Razoki, Lunda;
Aboulfaraj, Jamila;
Nassereddine, Sanaa;
Elbakay, Chadli;
Nasser, Boubker;
Barakat, Abdelhamid;
Rouba, Hassan

Publication type:

Article

Sensitive detection of FGFR1 N546K mosaic mutation in patient with encephalocraniocutaneous lipomatosis and pilocytic astrocytoma.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1622, doi. 10.1002/ajmg.a.61256

By:

Kordacka, Joanna;
Zakrzewski, Krzysztof;
Gruszka, Renata;
Witusik‐Perkowska, Monika;
Taha, Joanna;
Sikorska, Beata;
Liberski, Paweł P.;
Zakrzewska, Magdalena

Publication type:

Article

A review of genetic factors underlying craniorachischisis and omphalocele: Inspired by a unique trisomy 18 case.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1642, doi. 10.1002/ajmg.a.61255

By:

Tobin, Michael;
Gunaji, Rajesh;
Walsh, John C.;
Grice, Guerard P.

Publication type:

Article

Clinical features and mutational analysis in 114 young children with Wilson disease from South China.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1451, doi. 10.1002/ajmg.a.61254

By:

Li, Xiuzhen;
Lu, Zhikun;
Lin, Yunting;
Lu, Xinshuo;
Xu, Yi;
Cheng, Jing;
Shao, Yongxian;
Su, Xueying;
Liu, Zongcai;
Sheng, Huiying;
Cai, Yanna;
Li, Taolin;
Zhou, Zhizi;
Tan, Jingwen;
Liu, Hongsheng;
Huang, Yonglan;
Liu, Li;
Zeng, Chunhua

Publication type:

Article

A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1615, doi. 10.1002/ajmg.a.61217

By:

Alesi, Viola;
Loddo, Sara;
Calì, Federica;
Orlando, Valeria;
Genovese, Silvia;
Ferretti, Daniele;
Calacci, Chiara;
Calvieri, Giusy;
Falasca, Roberto;
Ulgheri, Lucia;
Drago, Fabrizio;
Dallapiccola, Bruno;
Baban, Anwar;
Novelli, Antonio

Publication type:

Article

Splice variant in ARX leading to loss of C‐terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1483, doi. 10.1002/ajmg.a.61216

By:

Shoubridge, Cheryl;
Jackson, Matilda;
Grinton, Bronwyn;
Berkovic, Samuel F.;
Scheffer, Ingrid E.;
Huskins, Shannon;
Thomas, Alison;
Ware, Tyson

Publication type:

Article

Psychological well‐being in patients with aneurysms‐osteoarthritis syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1491, doi. 10.1002/ajmg.a.61209

By:

Bons, Lidia R.;
Hoven, Allard T.;
Damirchi, Ayda E.;
Linde, Denise;
Dekker, Silvy;
Kauling, Robert M.;
Laar, Ingrid M. B. H.;
Utens, Elisabeth M. W. J.;
Budde, Ricardo P. J.;
Roos‐Hesselink, Jolien W.

Publication type:

Article

An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1459, doi. 10.1002/ajmg.a.61215

By:

Penders, Bas;
Dijk, Dieuwerke R.;
Bocca, Gianni;
Zimmermann, Luc J. I.;
Ravenswaaij‐Arts, Conny M. A.;
Gerver, Willem‐Jan M.

Publication type:

Article

Incontinentia pigmenti in adults.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1415, doi. 10.1002/ajmg.a.61205

By:

Scheuerle, Angela E.

Publication type:

Article

Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1603, doi. 10.1002/ajmg.a.61210

By:

Yüksel, Zafer;
Yazol, Merve;
Gümüş, Evren

Publication type:

Article

Delineating the expanding phenotype associated with SCAPER gene mutation.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1665, doi. 10.1002/ajmg.a.61202

By:

Fasham, James;
Arno, Gavin;
Lin, Siying;
Xu, Mingchu;
Carss, Keren J.;
Hull, Sarah;
Lane, Amelia;
Robson, Anthony G.;
Wenger, Olivia;
Self, Jay E.;
Harlalka, Gaurav V.;
Salter, Claire G.;
Schema, Lynn;
Moss, Timothy J.;
Cheetham, Michael E.;
Moore, Anthony T.;
Raymond, F. Lucy;
Chen, Rui;
Baple, Emma L.;
Webster, Andrew R.

Publication type:

Article

POGZ‐related epilepsy: Case report and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1631, doi. 10.1002/ajmg.a.61206

By:

Ferretti, Alessandro;
Barresi, Sabina;
Trivisano, Marina;
Ciolfi, Andrea;
Dentici, Maria L.;
Radio, Francesca C.;
Vigevano, Federico;
Tartaglia, Marco;
Specchio, Nicola

Publication type:

Article

Noninvasive diagnosis of TRIT1‐related mitochondrial disorder by measuring i6A37 and ms2i6A37 modifications in tRNAs from blood and urine samples.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1609, doi. 10.1002/ajmg.a.61211

By:

Takenouchi, Toshiki;
Wei, Fan‐Yan;
Suzuki, Hisato;
Uehara, Tomoko;
Takahashi, Takao;
Okazaki, Yasushi;
Kosaki, Kenjiro;
Tomizawa, Kazuhito

Publication type:

Article

Gonosomal versus somatogonadal mosaicism: What is in a name?

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1678, doi. 10.1002/ajmg.a.61204

By:

Happle, Rudolf

Publication type:

Article

RAF1 variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1598, doi. 10.1002/ajmg.a.61203

By:

Rodríguez, Fernando;
Ponce, Diana;
Berward, Francisco J.;
Lopetegui, Bernardita;
Cassorla, Fernando;
Aracena, Mariana

Publication type:

Article

The α2 chain of type IX collagen is essential for type IX collagen biosynthesis.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1672, doi. 10.1002/ajmg.a.61208

By:

Balasubramanian, Karthika;
Weis, MaryAnn;
Eyre, David R.;
Martin, Jorge;
Ortiz‐Sanchez, Jorge;
Duran, Ivan;
Vangala, Sitaram;
Wang, Juemei;
Friedman, Rick A.;
Krakow, Deborah;
Cohn, Daniel H.

Publication type:

Article

Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome—Expanding the phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1498, doi. 10.1002/ajmg.a.61191

By:

Nixon, Thomas R. W.;
Alexander, Philip;
Richards, Allan;
McNinch, Annie;
Bearcroft, Philip W. P.;
Cobben, Jan;
Snead, Martin P.

Publication type:

Article

Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain‐of‐function variant: Initial experience.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1585, doi. 10.1002/ajmg.a.61200

By:

Ma, Alan;
Gurnasinghani, Sunita;
Kirk, Edwin P.;
McClenaghan, Conor;
Singh, Gautam K.;
Grange, Dorothy K.;
Pandit, Chetan;
Zhu, Yung;
Roscioli, Tony;
Elakis, George;
Buckley, Michael;
Mehta, Bhavesh;
Roberts, Philip;
Mervis, Jonathan;
Biggin, Andrew;
Nichols, Colin G.

Publication type:

Article

Muenke syndrome: Medical and surgical comorbidities and long‐term management.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1442, doi. 10.1002/ajmg.a.61199

By:

Murali, Chaya N.;
McDonald‐McGinn, Donna M.;
Wenger, Tara Lynn;
McDougall, Carey;
Stroup, Bridget M.;
Sheppard, Sarah E.;
Taylor, Jesse;
Bartlett, Scott P.;
Bhoj, Elizabeth J.;
Zackai, Elaine H.;
Santani, Avni

Publication type:

Article

Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1580, doi. 10.1002/ajmg.a.61198

By:

Karakaya, Mert;
Paketci, Cem;
Altmueller, Janine;
Thiele, Holger;
Hoelker, Irmgard;
Yis, Uluc;
Wirth, Brunhilde

Publication type:

Article

Speech difficulties and patient health communication mediating effects on worry and health‐related quality of life in children, adolescents, and young adults with Neurofibromatosis Type 1.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1476, doi. 10.1002/ajmg.a.61197

By:

Varni, James W.;
Nutakki, Kavitha;
Swigonski, Nancy L.

Publication type:

Article

Loss of function BMP4 mutation supports the implication of the BMP/TGF‐β pathway in the etiology of combined pituitary hormone deficiency.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1591, doi. 10.1002/ajmg.a.61201

By:

Rodríguez‐Contreras, Francisco J.;
Marbán‐Calzón, Mercedes;
Vallespín, Elena;
del Pozo, Ángela;
Solís‐López, Mario;
Lobato‐Vidal, Nerea;
Fernández‐Elvira, María;
del Valle Rex‐Romero, María;
Heath, Karen E.;
González‐Casado, Isabel;
Campos‐Barros, Ángel

Publication type:

Article

Familial aggregation of "apple peel" intestinal atresia and cardiac left‐sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1570, doi. 10.1002/ajmg.a.61195

By:

Digilio, M. Cristina;
Magliozzi, Monia;
Di Pede, Alessandra;
Valfrè, Laura;
Dentici, Maria Lisa;
Auriti, Cinzia;
Marino, Bruno;
Novelli, Antonio;
Dallapiccola, Bruno

Publication type:

Article

Tuberous sclerosis in a patient from Nigeria.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1423, doi. 10.1002/ajmg.a.61194

By:

Ekure, Ekanem N.;
Addissie, Yonit A.;
Sokunbi, Ogochukwu Jidechukwu;
Kruszka, Paul;
Muenke, Maximilian;
Adeyemo, Adebowale A.

Publication type:

Article

Isolated postaxial polydactyly: Epidemiologic characteristics from a multicenter birth defects study.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1432, doi. 10.1002/ajmg.a.61193

By:

Ortiz‐Cruz, Gabriela;
Luna‐Muñoz, Leonora;
Arteaga‐Vázquez, Jazmín;
Mutchinick, Osvaldo M.

Publication type:

Article

Acromesomelic dysplasia Maroteaux‐type in patients from Vietnam.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1420, doi. 10.1002/ajmg.a.61192

By:

Tran, Thinh Huy;
Cao, My Ha;
Luong, Long Hoang;
Le, Phuong Thi;
Vu, Dung Chi;
Ta, Thanh Dat;
Bui, The‐Hung;
Nguyen, Duc Hinh;
Van Ta, Thanh;
Tran, Van Khanh

Publication type:

Article

Refining the phenotype of the THG1L (p.Val55Ala mutation)‐related mitochondrial autosomal recessive congenital cerebellar ataxia.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1575, doi. 10.1002/ajmg.a.61196

By:

Walker, Melissa A.;
Lerman‐Sagie, Tally;
Swoboda, Kathryn;
Lev, Dorit;
Blumkin, Lubov

Publication type:

Article

Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1565, doi. 10.1002/ajmg.a.61189

By:

Wojcik, Monica H.;
Linnea, Kate;
Stoler, Joan M.;
Rappaport, Leonard

Publication type:

Article

Expansion of the clinical spectrum associated with AARS2‐related disorders.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1556, doi. 10.1002/ajmg.a.61188

By:

Srivastava, Siddharth;
Butala, Ankur;
Mahida, Sonal;
Richter, John;
Mu, Weiyi;
Poretti, Andrea;
Vernon, Hilary;
VanGerpen, Jay;
Atwal, Paldeep S.;
Middlebrooks, Erik H.;
Zee, David S.;
Naidu, SakkuBai

Publication type:

Article

Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot–Marie–Tooth patients with TFG mutation.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1507, doi. 10.1002/ajmg.a.61184

By:

Khani, Marzieh;
Taheri, Hanieh;
Shamshiri, Hosein;
Houlden, Henry;
Efthymiou, Stephanie;
Alavi, Afagh;
Nafissi, Shahriar;
Elahi, Elahe

Publication type:

Article

Compound heterozygosity for a frameshift mutation and an upstream deletion that reduces expression of SERPINH1 in siblings with a moderate form of osteogenesis imperfecta.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1466, doi. 10.1002/ajmg.a.61170

By:

Schwarze, Ulrike;
Cundy, Tim;
Liu, Yajuan J.;
Hofman, Paul L.;
Byers, Peter H.

Publication type:

Article

Introducing in AJMG Part A: Genetic Syndromes in Adults.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1413, doi. 10.1002/ajmg.a.61141

By:

Slavotinek, Anne M.;
Muenke, Maximilian

Publication type:

Article

Mek Inhibitor Reverses Hypertrophic Cardiomyopathy in RIT1 Mutated Noonan Syndrome: For the first time, hypertrophic cardiomyopathy was reversed in Noonan syndrome associated with a RIT1 mutation.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1408, doi. 10.1002/ajmg.a.40456
Publication type:: Article

Publication schedule for 2019.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1407, doi. 10.1002/ajmg.a.40455
Publication type:: Article

Table of Contents, Volume 179A, Number 8, August 2019.

Published in:: American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1401, doi. 10.1002/ajmg.a.40454
Publication type:: Article