Prior Research

Bibliographies of 22q

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Last updated fall 2015

Bassett, A.S., McDonald-McGinn, D.M., Devriendt, K., Digilio, M.C., Goldenberg, P., Habel, A., Marino, B., Oskarsdottir, S., Philip, N., Sullivan, K., Swillen, A., Vorstman, J., and The International 22q11.2 Deletion Syndrome Consortium. (2011). Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome. J Peds, 159(2), 332-339.

Alikaşifoğlu, M., Malkoç, N., Ceviz, N., Ozme, S., Uludoğan, S., & Tunçbilek, E. (2000). Microdeletion of 22q11 (CATCH 22) in children with conotruncal heart defect and extracardiac malformations. Turk J Pediatrics, 42(3), 215-8.

Awasthy, N., & Khatri, S. (2013). Treatable Cause of Ventricular Dysfunction in DiGeorge Syndrome. Indian Pediatr, 50, 855.

Bawle, E.V., Conard, J., Van Dyke, D.L., Czarnecki, P., & Driscoll, D.A. (1998). Seven New cases of Cayler Cardiofacial Syndrome with Chromosome 22q11.2 Deletion, Including a Familial Case. Am J Med Genetics, 79(5), 406-410.

Borgmann, S., Luhmer, I., Arslan-Kirchner, M., Kallfelz, H.C., & Schmidtke, J. (1999). A Search for Chromosome 22q11.2 Deletions in a Series of 176 Consecutively Catheterized Patients with Congenital Heart Disease: No Evidence for Deletions in Non-syndromic Patients. Eur J Ped., 158(12), 958-963.

Boudjemline, Y., Fermont, L., Le Bidois, J., Lyonnet, S., Sidi, D., & Bonnet, D. (2001). Prevalence of the 22q11 deletion in fetuses with conotruncal cardiac defects: A 6-year prospective study. Journal of Pediatrics, 138(4), 520-4.


Choudhry, P., & Trede, N. S. (2013). DiGeorge Syndrome Gene tbx1 Functions through wnt11r to Regulate Heart Looping and Differentiation. PloS one, 8(3), e58145.

Digilio, M. C., Luca, A. D., Lepri, F., Guida, V., Ferese, R., Dentici, M. L., … & Dallapiccola, B. (2013). JAG1 Mutation in a patient with deletion 22q11. 2 syndrome and tetralogy of Fallot. American Journal of Medical Genetics Part A, 161(12), 3133-3136.

Duke C. & Chan K.C. (2001). Isolated Innominate Artery in 22q11 Microdeletion. Pediatr Cardiology, 22(1), 80-82.

Fokstuen, S., Arbenz, U., Artan, S., Dutly, F., Bauersfeld, U., Brecevic, L.,Schinzel, A. (1998). 22q11.2 Deletions in a Series of Patients with Non-Selective Congenital Heart Defects: Incidence, Type of Defects andParental Origin. Clin Genet, 53(1), 63-69.

Forrester, S., Kovach, M.J., Smith, R.E., Rimer, L., Wesson, M., & Kimonis, V.E. (2002). Kousseff Syndrome Caused by Deletion of Chromosome 22q11-13. Am J Med Genetics, 112(4), 338-342.

Ganji, H., Salehi, M., Sedghi, M., Abdali, H., Nouri, N., Sadri, L., … & Lotfi, M. (2013). Investigation of TBX1 gene deletion in Iranian children with 22q11. 2 deletion syndrome: correlation with conotruncal heart defects. Heart Asia, 5(1), 200-202.

Giray, O., Ulgenalp, A., Bora, E., Saylam, G. S., Unal, N., Mese T.,…Ercal, D. (2003). Congenital cardiac defects with 22q11 deletion. Turkish Journal of Pediatrics, 45(3), 217-220.

Goldmuntz, E., Driscoll, D. A., Emanuel, B. S., McDonald-McGinn, D., Mei, M., Zackai, E., & Mitchell, L.E. (2009) Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome. Birth Defects Res A Clin Mol Teratol, 85(2), 125-9.

Hofbeck, M., Leipold, G., Rauch, A., Buheitel, G., & Singer, H. (1999). Clinical Relevance of Monosomy 22q11.2 in Children with Pulmonary Atresia and Ventricular Septal Defect. Eur J Pediatrics, 158(4), 302-307.

Jacobson, Z., Glickstein, J., Hensle, T. & Marion, R. W. (1998). Further delineation of the Opitz G/BBB syndrome: report of an infant with complex congenital heart disease and bladder exstrophy, and review of the literature. Am J Med Genet, 78(3), 294-9.

John, A. S., McDonald-McGinn, D. M., Zackai, E. H., & Goldmuntz, E. (2009) Aortic root dilation in patients with 22q11.2 deletion syndrome. Am J Med Genet, 149A(5), 939-42.

Johnson, M., Gentry, L., Rice, G., & Mount, D. (2009). A Case of Congenitally Absent Left Internal Carotid Artery: Vascular Malformations in 22q11.2 Deletion Syndrome. Cleft Palate Craniofacial Journal, [Epub ahead of print].

Johnson, M.C., Strauss, A.W., Dowton, S.B., Spray, T.L., Huddleston, C.B., Wood, M.K.,…Watson MS. (1995). Deletion within chromosome 22 is common in patients with absent pulmonary valve syndrome. Am J Cardiology, 76(1), 66-9.

Kessler-Icekson, G., Birk, E., Weintraub, A.Y., Barhum, Y., Kotlyar, V., Schlesinger, H.,…Frisch, A. (2002). Association of Tetralogy of Fallot with a distinct region of del22q11.2. Am J Med Genet, 107(4), 294-8.

Lascone, M, R. (2001). Complex conotruncal heart defect, severe bleeding disorder and 22q11 deletion: a new case of Bernard-Soulier syndrome and of 22q11 deletion syndrome? Ital Heart Journal, 2(6), 475-7.

Lindsay, E.A., Rizzu, P., Antonacci, R., Jurecic, V., Delmas-Mata, J., Lee, C.C., Baldini, A. (1996). A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart. Genomics, 32(1), 104-12.

Maeda, J., Yamagishi, H., Matsuoka, R., Ishihara, J., Tokumura, M., Fukushima, H., Kojima, Y. (2000). Frequent association of 22q11.2 deletion with tetralogy of fallot. Am J Med Genet, 92(4), 269-72.

Marble, M., Morava, E., Lopez, R., Pierce, M., & Pierce, R. (1998). Report of a New Patient with Transposition of the Great Arteries With Deletion of 22q11.2. American Journal of Medical Genetics, 78(4), 317-318.

Marino, B., Digilio, M.C., Novelli, G., Giannotti, A., & Dallapiccola, B.. (1997). Tricuspid Atresia and 22q11 Deletion. Marino B, et al. Am J Med Genet, 72(1), 40-42.

Marino, B., Digilio, M.C., Toscano, A., & Dallapiccola, B. (2000). Deficiency of the infundibular septum in patients with interrupted aortic arch and del 22q11. Cardiol Young, 10(4), 428-9.

Marino, B., Digilio, M.C., Persiani, M., Di Donato, R., Toscano, A., Giannotti, A., Dallapiccola, B. (1999). Deletion 22q11 in Patients with Interrupted Aortic Arch. Am J Cardiology, 84(3), 360-361.

Matsuoka, R., Takao, A., Kimura, M., Imamura, S., Kondo, C., Joh-o, K.,…Momma, K. (1994). Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2. American Journal of Medical Genetics, 53(3), 285-9.

McDonald, R., Dodgen, A., Goyal, S., Gossett, J. M., Shinkawa, T., Uppu, S. C., … & Gupta, P. (2013). Impact of 22q11. 2 Deletion on the Postoperative Course of Children After Cardiac Surgery. Pediatric cardiology, 1-7.

McElhinney, D. B., Clark, B. J., Weinberg, P. M., Kenton, M. L., McDonald-McGinn, D., Driscoll, D. A.,….Goldmuntz, E. (2001). Association of Chromosome 22q11 Deletion with Isolated Anomalies of Aortic Arch Laterality and Branching. Pediatric Cardiology, 37(8), 2114-9.

McElhinney, D. B., et al. (2001). Association of Chromosome 22q11 Deletion With Isolated Anomalies of Aortic Arch Laterily and Branching. Journal of the American College of Cardiology, 37(8), 2114-2119.

McElhinney, D.B., McDonald-McGinn, D., Zackai, E.H., Goldmuntz, E. (2001). Cardiovascular Anomalies in Patients Diagnosed with a Chromosome 22q11 Deletion Beyond 6 Months of Age. Pediatrics, 108(6), E104.

Momma, K., Matsuoka, R., & Takao A,. (1999). Aortic Arch Anomalies Associated with Chromosome 22q11 Deletion (CATCH 22). Pediatr Cardiology, 20(2), 97-102.

Nakagawa, M., Okamoto, N., Fujino, H., Watanabe, N., Okuno, M. (2000). Tetracuspid aortic valve in a patient with 22q11.2 microdeletion. Am J Med Genetics, 93(1), 74-5.

Oh, D.C., Min, J.Y., Lee, M.H., Kim, Y.M., Park, S.Y., Won, H.S.,…Ryu, H.M. (2002). Prenatal Diagnosis of Tetralogy of Fallot Associated with Chromosome 22q11 Deletion. J Korean Med Science, 17(1), 125-8.

Peyvandi, S., Lupo, P. J., Garbarini, J., Woyciechowski, S., Edman, S., Emanuel, B. S., … & Goldmuntz, E. (2013). 22q11. 2 Deletions in Patients with Conotruncal Defects: Data from 1,610 Consecutive Cases. Pediatric cardiology,1-8.

Puder, K.S., Humes, R.A., Gold, R.L., Bawle, E.V., & Goyert, G.L. (1995). The genetic implication for preceding generations of the prenataldiagnosis of interrupted aortic arch in association with unsuspected DiGeorge anomaly. Am J Obstet Gynecology, 173(1), 239-41.

Rai, B., Mallick, D., Thapa, R., & Biswas, B. (2014). Cayler cardiofacial syndrome with situs inversus totalis. European journal of pediatrics, 1-4.

Rauch, A., Hofbeck, M., Bähring, S., Leipold, G., Trautmann, U., Singer, H., & Pfeiffer, R.A. (1998). Monozygotic Twins Concordant for Cayler Syndrome. Am J Med Genetics, 75(1),113-117.

Rauch, A., Hofbeck, M., Leipold, G., Klinge, J., Trautmann, U., Kirsch, M., Singer, H., & Pfeiffer, R.A. (1998). Incidence and Significance of 22q11.2 Hemizygosity in Patients with Interrupted Aortic Arch. Am J Med Genetics, 78(4), 322-331.

Raymond, F.L., Simpson, J.M., Mackie, M., & Sharland, G.K. (1997). Prenatal Diagnosis of 22q11 deletions: a Series of Five Cases with Congenital Heart Defects. J Med Genetics, 34(8), 679-682.

Saliba Z, Le Bidois J, Sidi D., Kachaner J, and Bonnet D. (1999). Prenatal Detection of a Tetralogy of Fallot with origin of the Left Pulmonary Artery from the Ascending Aorta in a Familial 22q11 Microdeletion. Prenatal Diagnosis, 19(3), 260-262.

Seaver, L.H., Pierpont, J.W., Erickson, R.P., Donnerstein, R.L., & Cassidy, S.B. (1994). Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome. Journal of Medical Genetics, 31(11), 830-4.

Shashi, V., Berry, M.N., & Hines, M.H. (2003). Vasomotor Instability in Neonates with Chromosome 22q11 Deletion Syndrome. Am J Med Genetics, 121A(3), 231-234.

Velagaleti, G.V., Kumar, A., Lockhart, L.H., & Matalon, R. (2000). Patent ductus arteriosis and microdeletion 22q11 in a patient with Klinefelter Syndrome. Ann Genetics, 43(2),105-107.

Volpe, P., Marasini, M., Caruso, G., & Gentile, M. (2002). Prenatal diagnosis of interruption of the aortic arch and its association with deletion of chromosome 22q11. Ultrasound Obstet Gynecology, 20(4), 327-331.

Worthington, S., Bower, C., Harrop, K., Loh, J., & Walpole, I. (1998). 22q11deletions in patients with conotruncal heart defects..J. Paediatr. Child Health, 34(5), 438-443.

Yamagishi, H., Garg, V., Matsuoka, R., Thomas, T., & Srivastava, D. (1999). A Molecular Pathway Revealing a Genetic Basis for Human Cardiac and Craniofacial Defects. Science, 283(5405), 1158-61.

Yamanaka, S., Tanaka, Y., Kawataki, M., Ijiri, R., Imaizumi, K., & Kurahashi, H. (2000). Chromosome 22q11 deletion complicated by dissecting pulmonary arterial aneurysm and jejunal atresia in an infant. Arch Pathol Lab Med.,124(6), 880-2.

Yi, J. J., Tang, S. X., McDonald‐McGinn, D. M., Calkins, M. E., Whinna, D. A., Souders, M. C., … & Gur, R. E. (2013). Contribution of congenital heart disease to neuropsychiatric outcome in school‐age children with 22q11. 2 deletion syndrome. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.

Yong, D.E., Booth, P., Baruni, J., Massie, D., Stephen, G., Couzin, D., & Dean, J.C. (1999). Chromosome 22q11 Microdeletion and Congenital Heart Disease – a Survey in a Pediatric Population. Eur J Ped., 158(7), 566-570.


Salehzadeh, F., Jahangiri, S., Bagheri, A., & Habibzadeh, S. (2013).
Digeorge Syndrome and Juvenile Idiopathic Arthritis Association; Case Report and Brief Etiologic Discussion. Iranian Journal of Pediatrics.

Kulan, P., Pekiner, F. N., & Akyüz, S. (2013).
Oral Manifestation and Dental Management of CATCH 22 Syndrome. Marmara Dental Journal,
1(1), 46-48.

Cordovez, J. A., Capasso, J., Lingao, M. D., Sadagopan, K. A., Spaeth, G. L., Wasserman, B. N., & Levin, A. V. (2014).
Ocular Manifestations of 22q11. 2 Microduplication. Ophthalmology,
121(1), 392-398.

De Niro, J. E., Randhawa, S., & McDonald, H. R. (2013).
Retinal Vascular Tortuosity in Digeorge Syndrome Complicated By Solar Retinopathy. Retinal Cases and Brief Reports.

Reis, L. M., Tyler, R. C., Zori, R., Burgess, J., Mueller, J., & Semina, E. V. (2013).
A Case of 22q11. 2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1. Ophthalmic genetics,
(0), 1-3.

Tarlan, B., Kiratli, H., Kiliç, E., Utine, E., & Boduroglu, K. (2013).
A case of 22q11. 2 deletion syndrome with right microphthalmia and left corneal staphyloma. Ophthalmic genetics,
(0), 1-4.

Vitamin B12 ameliorates the phenotype of a mouse model of DiGeorge syndrome

Oxford Journals – Oxford University Press model of DiGeorge syndrome. Gabriella Lania1,†, Alberto Bresciani2,†, Monica Bisbocci2,. Alessandra Francone2, Vincenza Colonna1, Sergio …

Fuchs, J. C., Zinnamon, F. A., Taylor, R. R., Ivins, S., Scambler, P. J., Forge, A., … & Linden, J. F. (2013).
Hearing Loss in a Mouse Model of 22q11. 2 Deletion Syndrome.
PloS one, 8(11), e80104.

Karpinski, B. A., Maynard, T. M., Fralish, M. S., Nuwayhid, S., Zohn, I., Moody, S. A., & LaMantia, A. S. (2013).
Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge/22q11 Deletion
Syndrome. Disease models & mechanisms, dmm-012484.

Karpinski, B. A., Maynard, T. M., Fralish, M. S., Nuwayhid, S., Zohn, I., Moody, S. A., & LaMantia, A. S. (2013).
Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge/22q11 Deletion Syndrome. Disease models & mechanisms, dmm-012484.

Meechan, D. W., Rutz, H. L. H., Fralish, M. S., Maynard, T. M., Rothblat, L. A., & LaMantia, A. S. (2013).Cognitive Ability is Associated with Altered Medial Frontal Cortical Circuits in the LgDel Mouse Model of 22q11. 2DS.Cerebral Cortex, bht308.

Spruijt, N. E., Rana, M. S., Christoffels, V. M., & Mink van der Molen, A. B. (2013).
Exploring a neurogenic basis of velopharyngeal dysfunction in< i> Tbx 1 mutant mice: No difference in volumes of the nucleus ambiguus.International journal of pediatric otorhinolaryngology.

Toritsuka, M., Kimoto, S., Muraki, K., Landek-Salgado, M. A., Yoshida, A., Yamamoto, N., … & Tanigaki, K. (2013).
Deficits in microRNA-mediated Cxcr4/Cxcl12 signaling in neurodevelopmental deficits in a 22q11 deletion syndrome mouse model. Proceedings of the National Academy of Sciences, 110(43), 17552-17557.


Giardino, G., Cirillo, E., Maio, F., Gallo, V., Esposito, T., Naddei, R., … & Pignata, C. (2013).
Gastrointestinal involvement in patients affected with 22q11. 2 deletion syndrome. Scandinavian journal of gastroenterology, (0), 1-6.

Burt, İ. A. (2013).
Craniofacial Dysmorphology and Hypodontia in 22q11. 2 Deletion Syndrome.

Filip, C., Matzen, M., Aukner, R., Moe, M., Høgevold, H. E., Åbyholm, F., … & Tønseth, K. (2013).
Superiorly Based Pharyngeal Flap for Treatment of Velopharyngeal Insufficiency in Patients With 22q11. 2 Deletion Syndrome.Journal of Craniofacial Surgery, 24(2), 501-504.

Pasick, C., McDonald-McGinn, D. M., Simbolon, C., Low, D., Zackai, E., & Jackson, O. (2013).
Asymmetric Crying Facies in the 22q11. 2 Deletion Syndrome Implications for Future Screening. Clinical pediatrics, 52(12), 1144-1148.

Rojnueangnit, K., & Robin, N. H. (2013).
Craniosynostosis and radial ray defect: A rare presentation of 22q11. 2 deletion syndrome. American Journal of Medical Genetics Part A, 161(8), 2024-2026.

Sainsbury, D. C., Filson, S., Butterworth, S., Tahir, A., & Hodgkinson, P. D. (2013).
Velopharyngoplasty in patients with 22q11. 2 microdeletion syndrome: outcomes following the Newcastle protocol. European Journal of Plastic Surgery, 1-12.


Aurias, A. (1996).[Neurocristopathies and chromosome 22 deletions]. C R Seances Soc Biol Fil., 190(5-6), 569-75.

Binenbaum, G., McDonald-McGinn, D. M., Zackai, E. H., Walker, B. M., Coleman, K., Mach, A. M.,…Forbes, B.J. (2008) Sclerocornea associated with the chromosome 22q11.2 deletion syndrome. Am J Med Genetics, 146(7), 904-9.

Briegel, W., Schneider, M., & Schwab, K. O. (2009). 22q11.2 deletion: Handicap-related problems and coping strategies of primary caregivers. Z Kinder Jugendpsychiatr Psychother, 37(6), 535-540.

Bristow, J.D., & Bernstein H.S. (1998).Counseling Families with Chromosome 22q11 Deletions: The catch in CATCH -22. J Am Coll Cardiology, 32(2), 499-501.

Burn, J. (1999). Closing Time for Catch 22. J Med Genetics, 36(10), 737-738.

Cardona, L., & Grigorenko, E. L. (2013).Velocardiofacial Syndrome. InEncyclopedia of Autism Spectrum Disorders (pp. 3214-3219). Springer New York.

Chen, C. P., Huang, J. P., Chen, Y. Y., Chern, S. R., Wu, P. S., Su, J. W., … & Wang, W. (2013).Chromosome 22q11. 2 deletion syndrome: prenatal diagnosis, array comparative genomic hybridization characterization using uncultured amniocytes and literature review. Gene.

Cirillo, E., Giardino, G., Gallo, V., Puliafito, P., Azzari, C., Bacchetta, R., … & Pignata, C. (2014). Intergenerational and intrafamilial phenotypic variability in 22q11. 2 Deletion syndrome subjects. BMC medical genetics, 15(1), 1.

Corsten-Janssen, N., Saitta, S. C., Hoefsloot, L. H., McDonald-McGinn, D. M., Driscoll, D. A., Derks, R., … & van Ravenswaaij-Arts, C. M. A. (2013). More Clinical Overlap between 22q11. 2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated. Molecular Syndromology.

Dalben, G., Richieri-Costa, A., & Taveira, L. A. (2009). Craniofacial Morphology in Patients with Velocardiofacial Syndrome. Cleft Palate Craniofac Journal, 19(1).

D’Antonio, L.L., Scherer, N.J., Miller, L.L., Kalbfleisch, J.H., & Bartley, J.A. (2001). Analysis of Speech Characteristics in Children with Velocardiofacial Syndrome (VCFS) and Children with PhenotypicOverlap without VCFS. Cleft Palate-Craniofacial Journal, 39(5), 455-467.

Delio, M., Guo, T., McDonald-McGinn, D. M., Zackai, E., Herman, S., Kaminetzky, M., … & Vicari, S. (2013). Enhanced Maternal Origin of the 22q11. 2 Deletion in Velocardiofacial and DiGeorge Syndromes. The American Journal of Human Genetics. Psychiatry / Psychology / Development

Demczuk, S., & Aurias, A. (1995). DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. Ann Genetics, 38(2), 59-76.

Demczuk, S., Levy, A., Aubry, M., Croquette, M.F., Philip, N., Prieur, M.,…Thomas, G. (1995). Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review ofthe literature. Hum Genetics, 96(1), 9-13.

Devriendt, K., Fryns, J.P., Mortier, G., van Thienen, M.N., & Keymolen, K. (1998). The Annual Incidence of DiGeorge/velocardiofacial syndrome. J Med Genetics, 35(9), 789-790.

Digilio, M.C., Giannotti, A., Marino, B., Guadagni, A.M., Orzalesi, M., & Dallapiccola, B. (1997). Radial Aplasia and chromosome 22q11 deletion. J Med Genetics, 34(11), 942-944.

Digilio, M. C., McDonald-McGinn, D. M., Heike, C., Catania, C., Dallapiccola, B., Marino, B., & Zackai, E.H. (2009). Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2. Am J Med Genet A, 149A(12), 2860-4.

Enns, G.M., Cox, V.A., Golabi, M., Immken, L., Fisher, J., & Curry, C. (1999). Gastrointestinal Tract Anomalies in Velocardiofacial Syndrome. Am J Med Genetics, 84(4), 382-383.

Fernhoff, P.M. (2000). The 22q11.2 deletion syndrome: More answers but more questions. J Pediatr., 137(2),145-147.

Fryburg, J.S., Lin, K.Y., & Golden, W.L. (1996). Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome. Am J Med Genetics, 62(3), 274-5.

Fukai, R., Ochi, N., Murakami, A., Nakashima, M., Tsurusaki, Y., Saitsu, H., … & Miyake, N. (2013). Co‐occurrence of 22q11 deletion syndrome and hdr syndrome. American Journal of Medical Genetics Part A, 161(10), 2576-2581.

Goodship, J., Cross, I., LiLing, J. & Wren, C. (1998). A Population Study of Chromosome 22q11 Deletions in Infancy. Arch Dis Children, 79(4), 348-51.

Gregson, R. A. (2013). Decision Making with Complex Nonlinear Systems: Inference and Identification in the Context of DS22q11. 2. Nonlinear dynamics, psychology, and life sciences, 17(2), 173-181.

Habel, A., Herriot, R., Kumararatne, D., Allgrove, J., Baker, K., Baxendale, H., … & Tsai-Goodman, B. (2014). Towards a safety net for management of 22q11. 2 deletion syndrome: guidelines for our times. European journal of pediatrics, 1-9.

Hopkin, R.J., Schorry, E.K., Bofinger, M., & Saal, H.M. (2000). Increased need for medical interventions in infants with velocardiofacial (deletion 22q11) syndrome. J Pediatr., 137(2), 247-249.

Iselius, L., Lindsten, J., Aurias, A., Fraccaro, M., Bastard, C., Bottelli, A.M.,…Delendi, N. (1983). The 11q;22q translocation: a collaborative study of 20 new cases and analysis of 110 families. Human Genetics, 64(4), 343-355.

Klingberg, G., Oskarsdóttir, S., Johannesson, E.L., & Norén, J.G. (2002). Oral Manifestations in 22q11 deletion syndrome. International Journal of Pediatric Dentistry, 12(1), 14-23.

Kurahashi, H., Tsuda, E., Kohama, R., Nakayama, T., Masuno, M., Imaizumi, K.,…Nishisho, I. (1997). Another Critical Region for Deletion of 22q11: A Study of 100 Patients. Am J Med Genetics, 72(2), 180-185.

Lawrence, S., McDonald-McGinn, D. M.,Zackai, E. H., & Sullivan, K. E. (2003). Thrombocytopenia in patients with Chromosome 22q11.2 Deletion syndrome. The Journal of Pediatrics, 143(2), 277-8.

Leana-Cox, J., Pangkanon, S., Eanet, K.R., Curtin, M.S., & Wulfsberg, E.A. (1996). Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with a review of the literature. Am J Med Genetics, 65(4), 309-16.

Lee, S. K., Lee, M. J., Lee, H. J., Kim, B. K., Sohn, Y. B., & Chung, Y. S. (2013). A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman. Journal of Bone Metabolism, 20(1), 57-60.

Levy, A., Zucman, J., Delattre, O., Mattei, M.G., Rio, M.C., & Basset, P. (1992). Assignment of the human stromelysin 3 (STMY3) gene to the q11.2 region of chromosome 22. Genomics, 13(3), 881-3.

Lewandowicz-Uszynska, A., Zwonarz, K., & Chmielarska, J. (2013). The 22q11 microdeletion syndrome in children. Central European Journal of Immunology,38(2), 271-275.

Liling, J., Cross, I., & Burn, J.(1999). Frequency and predictive value of 22q11 deletion. J Med Genetics, 36(10), 794-795.

Lindsay, E.A., Goldberg, R., Jurecic, V., Morrow, B., Carlson, C., Kucherlapati, R.S.,… Baldini A. (1995). Velo-cardio-facialsyndrome: frequency and extent of 22q11 deletions. Am J Med Genetics, 57(3), 514-22.

Maggadottir, S. M., & Sullivan, K. E. (2013). The Diverse Clinical Features of Chromosome 22q11. 2 Deletion Syndrome (DiGeorge Syndrome). The Journal of Allergy and Clinical Immunology: In Practice, 1(6), 589-594.

Ming, J.E., McDonald-McGinn, D.M., Megerian, T.E., Driscoll, D.A., Elias, E.R., Russell, B.M.,…Zackai, E.H. (1997). Skeletal anomalies and Deformities in Patients with Deletions of 22q11. Am J Med Genetics, 72(2), 210-215.

Molck, M. C., Vieira, T. P., Sgardioli, I. C., Simioni, M., dos Santos, A. P., Souza, J., … & Gil-da-Silva-Lopes, V. L. (2013). Atypical copy number abnormalities in 22q11. 2 region: Report of three cases. European journal of medical genetics, 56(9), 515-520.

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Methylphenidate Treatment for Attention-Deficit/Hyperactivity Disorder in Children and Adolescents With Velocardiofacial Syndrome: An Open-Label Study

 The Effect of Methylphenidate on Prefrontal Cognitive Functioning, Inattention, and Hyperactivity in Velocardiofacial Syndrome

 Atypical Antipsychotics and Relapsing Psychoses in 22q11.2 Deletion Syndrome: A Long-term Evaluation of 28 Patients

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