Works matching IS 15524825 AND DT 2016 AND VI 170 AND IP 12

Results: 57

The Importance of Chilblains as a Diagnostic Clue for Mild Aicardi-Goutières Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3308, doi. 10.1002/ajmg.a.37944
By:
- Yarbrough, Kevin;
- Danko, Calida;
- Krol, Alfons;
- Zonana, Jonathan;
- Leitenberger, Sabra
Publication type:
Article
The Bedside Dysmorphologist A Guide to Identifying and Assessing Congenital Malformations Second Edition.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3347, doi. 10.1002/ajmg.a.37955
By:
- Wilson, Theodore E.
Publication type:
Article
First Report of Congenital Adrenal Cysts and Pheochromocytoma in a Patient with Mosaic Genome-Wide Paternal Uniparental Disomy.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3352, doi. 10.1002/ajmg.a.37959
By:
- White, Mary;
- McGillivray, George;
- White, Sue M.;
- Zacharin, Margaret R.
Publication type:
Article
SRD5A3-CDG: Expanding the Phenotype of a Congenital Disorder of Glycosylation with Emphasis on Adult Onset Features.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3165, doi. 10.1002/ajmg.a.37875
By:
- Wheeler, Patricia G.;
- Ng, Bobby G.;
- Sanford, Laura;
- Sutton, V. Reid;
- Bartholomew, Dennis W.;
- Pastore, Matthew T.;
- Bamshad, Michael J.;
- Kircher, Martin;
- Buckingham, Kati J.;
- Nickerson, Deborah A.;
- Shendure, Jay;
- Freeze, Hudson H.
Publication type:
Article
Somatic Mosaicism for a Lethal TRPV4 Mutation Results in Non-Lethal Metatropic Dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3298, doi. 10.1002/ajmg.a.37942
By:
- Weinstein, Michael M.;
- Kang, Taekyu;
- Lachman, Ralph S.;
- Bamshad, Michael;
- Nickerson, Deborah A.;
- Krakow, Deborah;
- Cohn, Daniel H.
Publication type:
Article
Importance of a Specialty Clinic for Individuals with Fragile X Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3144, doi. 10.1002/ajmg.a.37982
By:
- Visootsak, Jeannie;
- Kidd, Sharon A.;
- Anderson, Tovi;
- Bassell, Julia L.;
- Sherman, Stephanie L.;
- Berry‐Kravis, Elizabeth M.
Publication type:
Article
Phenotypic Evolution of UNC80 Loss of Function.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3106, doi. 10.1002/ajmg.a.37929
By:
- Valkanas, Elise;
- Schaffer, Katherine;
- Dunham, Christopher;
- Maduro, Valerie;
- du Souich, Christèle;
- Rupps, Rosemarie;
- Adams, David R.;
- Baradaran‐Heravi, Alireza;
- Flynn, Elise;
- Malicdan, May C.;
- Gahl, William A.;
- Toro, Camilo;
- Boerkoel, Cornelius F.
Publication type:
Article
Hirschsprung Disease as a Yet Undescribed Phenotype in a Patient with ARID1B Mutation.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3249, doi. 10.1002/ajmg.a.37861
By:
- Takenouchi, Toshiki;
- Yoshihashi, Hiroshi;
- Sakaguchi, Yuri;
- Uehara, Tomoko;
- Honda, Masataka;
- Takahashi, Takao;
- Kosaki, Kenjiro;
- Miyama, Sahoko
Publication type:
Article
Chromosome 5q33 Deletions Associated with Congenital Heart Defects.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3338, doi. 10.1002/ajmg.a.37957
By:
- Starkovich, Molly;
- Lalani, Seema R.;
- Mercer, Catherine L.;
- Scott, Daryl A.
Publication type:
Article
A Novel Familial Autosomal Dominant Mutation in ARID1B Causing Neurodevelopmental Delays, Short Stature, and Dysmorphic Features.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3313, doi. 10.1002/ajmg.a.37945
By:
- Smith, Joshua A.;
- Holden, Kenton R.;
- Friez, Michael J.;
- Jones, Julie R.;
- Lyons, Michael J.
Publication type:
Article
Further Evidence for GRIN2B Mutation as the Cause of Severe Epileptic Encephalopathy.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3265, doi. 10.1002/ajmg.a.37887
By:
- Smigiel, Robert;
- Kostrzewa, Grazyna;
- Kosinska, Joanna;
- Pollak, Agnieszka;
- Stawinski, Piotr;
- Szmida, Elzbieta;
- Bloch, Michal;
- Szymanska, Krystyna;
- Karpinski, Pawel;
- Sasiadek, Maria M.;
- Ploski, Rafal
Publication type:
Article
Detection of Gonadal Mosaicism in Hartsfield Syndrome by Next Generation Sequencing.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3359, doi. 10.1002/ajmg.a.37869
By:
- Shi, Yong;
- Dhamija, Radhika;
- Wren, Catherine;
- Wang, Xiangling;
- Babovic‐Vuksanovic, Dusica;
- Spector, Elaine
Publication type:
Article
Precision Assessment of Public Attitudes Toward Genetic Testing.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3185, doi. 10.1002/ajmg.a.37936
By:
- Shen, Jun
Publication type:
Article
Detecting Celiac Disease in Patients with Down Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3098, doi. 10.1002/ajmg.a.37879
By:
- Sharr, Christianne;
- Lavigne, Jenifer;
- Elsharkawi, Ibrahim M. A.;
- Ozonoff, Al;
- Baumer, Nicole;
- Brasington, Campbell;
- Cannon, Sheila;
- Crissman, Blythe;
- Davidson, Emily;
- Florez, Jose C.;
- Kishnani, Priya;
- Lombardo, Angela;
- Lyerly, Jordan;
- McDonough, Mary Ellen;
- Schwartz, Alison;
- Berrier, Kathryn L.;
- Sparks, Susan;
- Stock‐Guild, Kara;
- Toler, Tomi L.;
- Vellody, Kishore
Publication type:
Article
Joint Laxity in Homozygotes for Severe POU1F1 Mutations.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3356, doi. 10.1002/ajmg.a.37941
By:
- Shamseldin, Hanan E.;
- Maddirevula, Sateesh;
- Nabil, Amira;
- Al‐Fadhil, Saeed;
- Al Tala, Saeed;
- Alkuraya, Fowzan S.
Publication type:
Article
The Syndrome of Dysmorphic Facies, Renal Agenesis, Ambiguous Genitalia, Microcephaly, Polydactyly and Lissencephaly (DREAM-PL): Report of Two Additional Patients.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3222, doi. 10.1002/ajmg.a.37877
By:
- Shaheen, Ranad;
- Al‐Salam, Zakariya;
- El‐Hattab, Ayman W.;
- Alkuraya, Fowzan S.
Publication type:
Article
AUTS2 Syndrome in a 68-Year-Old Female: Natural History and Further Delineation of the Phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3231, doi. 10.1002/ajmg.a.37882
By:
- Sengun, Ece;
- Yararbas, Kanay;
- Kasakyan, Serdar;
- Alanay, Yasemin
Publication type:
Article
Growth Pattern in Kabuki Syndrome with a KMT2D Mutation.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3172, doi. 10.1002/ajmg.a.37930
By:
- Schott, Dina A.;
- Blok, Marinus J.;
- Gerver, Willem J. M.;
- Devriendt, Koenraad;
- Zimmermann, Luc J. I.;
- Stumpel, Constance T. R. M.
Publication type:
Article
Paternal Uniparental Disomy with Segmental Loss of Heterozygosity of Chromosome 11 are Hallmark Characteristics of Syndromic and Sporadic Embryonal Rhabdomyosarcoma.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3197, doi. 10.1002/ajmg.a.37949
By:
- Robbins, Katherine M.;
- Stabley, Deborah L.;
- Holbrook, Jennifer;
- Sahraoui, Rebecca;
- Sadreameli, Alexa;
- Conard, Katrina;
- Baker, Laura;
- Gripp, Karen W.;
- Sol‐Church, Katia
Publication type:
Article
Autosomal and X Chromosome Structural Variants Are Associated with Congenital Heart Defects in Turner Syndrome: The NHLBI GenTAC Registry.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3157, doi. 10.1002/ajmg.a.37953
By:
- Prakash, Siddharth K.;
- Bondy, Carolyn A.;
- Maslen, Cheryl L.;
- Silberbach, Michael;
- Lin, Angela E.;
- Perrone, Laura;
- Limongelli, Giuseppe;
- Michelena, Hector I.;
- Bossone, Eduardo;
- Citro, Rodolfo;
- Lemaire, Scott A.;
- Body, Simon C.;
- Milewicz, Dianna M.
Publication type:
Article
Phenotypic Variability in Patients with Osteogenesis Imperfecta Caused by BMP1 Mutations.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3150, doi. 10.1002/ajmg.a.37958
By:
- Pollitt, Rebecca C.;
- Saraff, Vrinda;
- Dalton, Ann;
- Webb, Emma A.;
- Shaw, Nick J.;
- Sobey, Glenda J.;
- Mughal, M. Zulf;
- Hobson, Emma;
- Ali, Farhan;
- Bishop, Nicholas J.;
- Arundel, Paul;
- Högler, Wolfgang;
- Balasubramanian, Meena
Publication type:
Article
Evidence for Troponin C (TNNC1) as a Gene for Autosomal Recessive Restrictive Cardiomyopathy with Fatal Outcome in Infancy.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3241, doi. 10.1002/ajmg.a.37860
By:
- Ploski, Rafal;
- Rydzanicz, Malgorzata;
- Ksiazczyk, Tomasz M.;
- Franaszczyk, Maria;
- Pollak, Agnieszka;
- Kosinska, Joanna;
- Michalak, Ewa;
- Stawinski, Piotr;
- Ziolkowska, Lidia;
- Bilinska, Zofia T.;
- Werner, Bozena
Publication type:
Article
Concomitant 11p15.4-p15.5 Duplication and Terminal 22q13.33 Deletion in a Patient with Features of Beckwith-Wiedemann Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3348, doi. 10.1002/ajmg.a.37939
By:
- Peterson, Jess F.;
- Bick, David P.;
- Geddes, Gabrielle C.;
- McCarrier, Julie;
- Grignon, John W.;
- Chirempes, Brett;
- Broeckel, Ulrich;
- Abidi, Fatima;
- Rogers, Richard C.;
- Boccuto, Luigi;
- DuPont, Barbara;
- vanTuinen, Peter
Publication type:
Article
Congenital Limb Deficiencies with Vascular Etiology: Possible Association with Maternal Thrombophilia.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3083, doi. 10.1002/ajmg.a.37890
By:
- Ordal, Leslie;
- Keunen, Johannes;
- Martin, Nicole;
- Shehata, Nadine;
- Borschel, Gregory H.;
- Clarke, Howard M.;
- Toi, Ants;
- Shuman, Cheryl;
- Chitayat, David
Publication type:
Article
Diagnostic Conundrums in Antenatal Presentation of a Skeletal Dysplasia with Description of a Heterozygous C-Propeptide Mutation in COL1A1 Associated with a Severe Presentation of Osteogenesis Imperfecta.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3303, doi. 10.1002/ajmg.a.37943
By:
- Marshall, Charlotte J.;
- Arundel, Paul;
- Mushtaq, Talat;
- Offiah, Amaka C.;
- Pollitt, Rebecca C.;
- Bishop, Nicholas J.;
- Balasubramanian, Meena
Publication type:
Article
Typical Facial Gestalt in X-Linked Kabuki Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3363, doi. 10.1002/ajmg.a.37864
By:
- Margot, Henri;
- Geneviève, David;
- Gatinois, Vincent;
- Arveiler, Benoit;
- Moutton, Sébastien;
- Touitou, Isabelle;
- Lacombe, Didier
Publication type:
Article
Prenatal Diagnosis of Simpson-Golabi-Behmel Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3258, doi. 10.1002/ajmg.a.37873
By:
- Magini, Pamela;
- Palombo, Flavia;
- Boito, Simona;
- Lanzoni, Giulia;
- Mongelli, Patrizia;
- Rizzuti, Tommaso;
- Baccarin, Marco;
- Pippucci, Tommaso;
- Seri, Marco;
- Lalatta, Faustina
Publication type:
Article
Clinical Intrafamilial Variability in Lethal Familial Neonatal Seizure Disorder Caused by TBC1D24 Mutations.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3207, doi. 10.1002/ajmg.a.37933
By:
- Lozano, Reymundo;
- Herman, Kristin;
- Rothfuss, Melanie;
- Rieger, Hillary;
- Bayrak‐Toydemir, Pinar;
- Aprile, Davide;
- Fruscione, Floriana;
- Zara, Federico;
- Fassio, Anna
Publication type:
Article
Kabuki Syndrome as a Cause of Non-Immune Fetal Hydrops/Ascites.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3333, doi. 10.1002/ajmg.a.37956
By:
- Long, Ashleigh;
- Sinkovskaya, Elena S.;
- Edmondson, Andrew C.;
- Zackai, Elaine;
- Schrier Vergano, Samantha A.
Publication type:
Article
Clinicians' Experiences with the Fragile X Clinical and Research Consortium.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3138, doi. 10.1002/ajmg.a.37948
By:
- Liu, Jessica A.;
- Hagerman, Randi J.;
- Miller, Robert M.;
- Craft, Lisa T.;
- Finucane, Brenda;
- Tartaglia, Nicole;
- Berry‐Kravis, Elizabeth M.;
- Sherman, Stephanie L.;
- Kidd, Sharon A.;
- Cohen, Jeffrey
Publication type:
Article
Maternal Uniparental Disomy for Chromosome 6 in a Patient with IUGR, Ambiguous Genitalia, and Persistent Mullerian Structures.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3227, doi. 10.1002/ajmg.a.37876
By:
- Lazier, Joanna;
- Martin, Nicole;
- Stavropoulos, James Dimitrios;
- Chitayat, David
Publication type:
Article
Vesicourethral Reflux-Induced Renal Failure in a Patient with ICF Syndrome Due to a Novel DNMT3B Mutation.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3253, doi. 10.1002/ajmg.a.37866
By:
- Kutluğ, Seyhan;
- Ogur, Gönül;
- Yilmaz, Aysegül;
- Thijssen, Peter E.;
- Abur, Ummet;
- Yildiran, Alisan
Publication type:
Article
Hypomorphic MKS1 Mutation in a Pakistani Family with Mild Joubert Syndrome and Atypical Features: Expanding the Phenotypic Spectrum of MKS1-Related Ciliopathies.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3289, doi. 10.1002/ajmg.a.37934
By:
- Khan, Saadullah;
- Ullah, Imran;
- Nasir, Abdul;
- Meijer, C. Arnoud;
- Laurense‐Bik, Marlies;
- den Dunnen, Johan T.;
- Ruivenkamp, Claudia A. L.;
- Hoffer, Mariëtte J. V.;
- Santen, Gijs W. E.;
- Ahmad, Wasim
Publication type:
Article
Somatic-Gonadal Mosaicism Causing Sotos Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3360, doi. 10.1002/ajmg.a.37867
By:
- Kamien, Benjamin;
- Dadd, Tessa;
- Buckman, Melissa;
- Ronan, Anne;
- Dudding, Tracy;
- Meldrum, Cliff;
- Scott, Rodney;
- Mina, Kym
Publication type:
Article
Neonatal Progeriod Syndrome Associated with Biallelic Truncating Variants in POLR3A.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3343, doi. 10.1002/ajmg.a.37960
By:
- Jay, Allison M.;
- Conway, Robert L.;
- Thiffault, Isabelle;
- Saunders, Carol;
- Farrow, Emily;
- Adams, John;
- Toriello, Helga V.
Publication type:
Article
Rodriguez Acrofacial Dysostosis Is Caused by Apparently De Novo Heterozygous Mutations in the SF3B4 Gene.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3133, doi. 10.1002/ajmg.a.37946
By:
- Irving, Melita D.;
- Dimitrov, Boyan I.;
- Wessels, Marja;
- Holder‐Espinasse, Muriel;
- Chitayat, David;
- Simpson, Michael A.
Publication type:
Article
Partially Methylated Alleles, Microdeletion, and Tissue Mosaicism in a Fragile X Male with Tremor and Ataxia at 30 Years of Age: A Case Report.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3327, doi. 10.1002/ajmg.a.37954
By:
- Hwang, Yun Tae;
- Aliaga, Solange Mabel;
- Arpone, Marta;
- Francis, David;
- Li, Xin;
- Chong, Belinda;
- Slater, Howard Robert;
- Rogers, Carolyn;
- Bretherton, Lesley;
- Hunter, Matthew;
- Heard, Robert;
- Godler, David Eugeny
Publication type:
Article
A Novel Mutation in PIGW Causes Glycosylphosphatidylinositol Deficiency without Hyperphosphatasia.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3319, doi. 10.1002/ajmg.a.37950
By:
- Hogrebe, Max;
- Murakami, Yoshiko;
- Wild, Martin;
- Ahlmann, Martina;
- Biskup, Saskia;
- Hörtnagel, Konstanze;
- Grüneberg, Marianne;
- Reunert, Janine;
- Linden, Tobias;
- Kinoshita, Taroh;
- Marquardt, Thorsten
Publication type:
Article
FGFR-Associated Craniosynostosis Syndromes and Gastrointestinal Defects.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3215, doi. 10.1002/ajmg.a.37862
By:
- Hibberd, Christine E.;
- Bowdin, Sarah;
- Arudchelvan, Yamini;
- Forrest, Christopher R.;
- Brakora, Katherine A.;
- Marcucio, Ralph S.;
- Gong, Siew‐Ging
Publication type:
Article
Response to Correspondence to Hale et al. Atypical Phenotypes Associated with Pathogenic CHD7 Variants and a Proposal for Broadening CHARGE Syndrome Clinical Diagnostic Criteria.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3367, doi. 10.1002/ajmg.a.37629
By:
- Hale, Caitlin L.;
- Niederriter, Adrienne N.;
- Green, Glenn E.;
- Martin, Donna M.
Publication type:
Article
Attitudes Toward Carrier Screening and Prenatal Diagnosis for Recessive Hereditary Deafness Among the Educated Population in Urban China.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3180, doi. 10.1002/ajmg.a.37932
By:
- Fu, Xiaoli;
- Cai, Yi;
- Hu, Yechen;
- Liu, Jisheng;
- Yang, Tao
Publication type:
Article
Phenotype and Genotype in 52 Patients with Rubinstein-Taybi Syndrome Caused by EP300 Mutations.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3069, doi. 10.1002/ajmg.a.37940
By:
- Fergelot, Patricia;
- Van Belzen, Martine;
- Van Gils, Julien;
- Afenjar, Alexandra;
- Armour, Christine M.;
- Arveiler, Benoit;
- Beets, Lex;
- Burglen, Lydie;
- Busa, Tiffany;
- Collet, Marie;
- Deforges, Julie;
- de Vries, Bert B. A.;
- Dominguez Garrido, Elena;
- Dorison, Nathalie;
- Dupont, Juliette;
- Francannet, Christine;
- Garciá‐Minaúr, Sixto;
- Gabau Vila, Elisabeth;
- Gebre‐Medhin, Samuel;
- Gener Querol, Blanca
Publication type:
Article
Renal Angiomyolipoma in Birt-Hogg-Dube Syndrome: A Case Study Supporting Overlap with Tuberous Sclerosis Complex.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3323, doi. 10.1002/ajmg.a.37952
By:
- Dow, Eryn;
- Winship, Ingrid
Publication type:
Article
Unusual X-Chromosome Inactivation Pattern in Patients with Xp11.23-p11.22 Duplication: Report and Review.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3271, doi. 10.1002/ajmg.a.37888
By:
- Di‐Battista, Adriana;
- Meloni, Vera Ayres;
- da Silva, Magnus Dias;
- Moysés‐Oliveira, Mariana;
- Melaragno, Maria Isabel
Publication type:
Article
Correspondence to Hale et al. Atypical Phenotypes Associated with Pathogenic CHD7 Variants and a Proposal for Broadening CHARGE Syndrome Clinical Diagnostic Criteria.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3365, doi. 10.1002/ajmg.a.37627
By:
- Blake, Kim;
- Trider, Carrie‐Lee;
- Hartshorne, Timothy S.;
- Stratton, Kasee K.
Publication type:
Article
Much Ado About Something 2: Reflections on the State of the American Journal of Medical Genetics 2016.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3067, doi. 10.1002/ajmg.a.38037
By:
- Carey, John C.
Publication type:
Article
Two Cases with De Novo 3q26.31 Microdeletion Suggest a Role for FNDC3B in Human Craniofacial Development.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3276, doi. 10.1002/ajmg.a.37892
By:
- Cao, Yang;
- Mitchell, Elyse B.;
- Gorski, Jerome L.;
- Hollinger, Cassandra;
- Hoppman, Nicole L.
Publication type:
Article
Cognitive, Adaptive, and Behavioral Features in Joubert Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3115, doi. 10.1002/ajmg.a.37938
By:
- Bulgheroni, Sara;
- D'Arrigo, Stefano;
- Signorini, Sabrina;
- Briguglio, Marilena;
- Di Sabato, Maria Lucia;
- Casarano, Manuela;
- Mancini, Francesca;
- Romani, Marta;
- Alfieri, Paolo;
- Battini, Roberta;
- Zoppello, Marina;
- Tortorella, Gaetano;
- Bertini, Enrico;
- Leuzzi, Vincenzo;
- Valente, Enza Maria;
- Riva, Daria
Publication type:
Article
11q Terminal Deletion and Combined Immunodeficiency (Jacobsen Syndrome): Case Report and Literature Review on Immunodeficiency in Jacobsen Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3237, doi. 10.1002/ajmg.a.37859
By:
- Blazina, Štefan;
- Ihan, Alojz;
- Lovrečić, Luca;
- Hovnik, Tinka
Publication type:
Article
Tietz/Waardenburg Type 2A Syndrome Associated with Posterior Microphthalmos in Two Unrelated Patients with Novel MITF Gene Mutations.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3294, doi. 10.1002/ajmg.a.37937
By:
- Cortés‐González, Vianney;
- Zenteno, Juan Carlos;
- Guzmán‐Sánchez, Martín;
- Giordano‐Herrera, Verónica;
- Guadarrama‐Vallejo, Dalia;
- Ruíz‐Quintero, Narlly;
- Villanueva‐Mendoza, Cristina
Publication type:
Article