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Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions. Prenat Diagn. 2024 02; 44(2):237-246.
Verscaj CP, Velez-Bartolomei F, Bodle E, Chan K, Lyons MJ, Thorson W, Tan WH, Rodig N, Graham JM, Peron A, Quintero-Rivera F, Zackai EH, Thomas MA, Stevens CA, Adam MP, Bird LM, Jones MC, Matalon DR. PMID: 37632214.
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Translation:
Humans
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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms. Am J Med Genet A. 2023 08; 191(8):2113-2131.
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID. PMID: 37377026; PMCID: PMC10524367.
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PubMed Mentions:
2 Fields:
Translation:
Humans
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Further delineation of the CWC27-associated spliceosomeopathy: Case report and review of the literature. Am J Med Genet A. 2023 05; 191(5):1378-1383.
Yassin SH, Henderson R, Lenberg J, Murillo V, Murdock DR, Friedman J, Jones MC, Wigby K, Borooah S. PMID: 36718996.
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HumansCells
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Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing. Am J Med Genet A. 2023 04; 191(4):930-940.
Wigby K, Hammer M, Tokita M, Patel P, Jones MC, Larson A, Bartolomei FV, Dykzeul N, Slavotinek A, Yip T, Bandres-Ciga S, Simpson BN, Suhrie K, Shankar S, Veith R, Bragg J, Powell C, Kingsmore SF, Dimmock D, Maron J, Davis J, Del Campo M. PMID: 36651673.
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Humans
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Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. Am J Med Genet A. 2022 10; 188(10):2958-2968.
Hardcastle A, Berry AM, Campbell IM, Zhao X, Liu P, Gerard AE, Rosenfeld JA, Sisoudiya SD, Hernandez-Garcia A, Loddo S, Di Tommaso S, Novelli A, Dentici ML, Capolino R, Digilio MC, Graziani L, Rustad CF, Neas K, Ferrero GB, Brusco A, Di Gregorio E, Wellesley D, Beneteau C, Joubert M, Van Den Bogaert K, Boogaerts A, McMullan DJ, Dean J, Giuffrida MG, Bernardini L, Varghese V, Shannon NL, Harrison RE, Lam WWK, McKee S, Turnpenny PD, Cole T, Morton J, Eason J, Jones MC, Hall R, Wright M, Horridge K, Shaw CA, Chung WK, Scott DA. PMID: 35904974; PMCID: PMC9474674.
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Animals
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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. Am J Med Genet A. 2021 06; 185(6):1649-1665.
Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. PMID: 33783954; PMCID: PMC8631250.
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PubMed Mentions:
21 Fields:
Translation:
Humans
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Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis. Cold Spring Harb Mol Case Stud. 2020 10; 6(5).
Sanford E, Jones MC, Brigger M, Hammer M, Giudugli L, Kingsmore SF, Dimmock D, Bainbridge MN. PMID: 33028643; PMCID: PMC7552926.
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PubMed Mentions:
6 Fields:
Translation:
Humans
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Ultrasound and Magnetic Resonance Imaging of Agenesis of the Corpus Callosum in Fetuses: Frontal Horns and Cavum Septi Pellucidi Are Clues to Earlier Diagnosis. J Ultrasound Med. 2020 Dec; 39(12):2389-2403.
Ghassemi N, Rupe E, Perez M, Lamale-Smith L, Fratto VM, Farid N, Hahn M, Ramos GA, Ho Y, Rakow-Penner R, Horton K, Khan S, Jones M, Pretorius DH. PMID: 32597533.
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Humans
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Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations. Am J Hum Genet. 2020 01 02; 106(1):121-128.
Hughes JJ, Alkhunaizi E, Kruszka P, Pyle LC, Grange DK, Berger SI, Payne KK, Masser-Frye D, Hu T, Christie MR, Clegg NJ, Everson JL, Martinez AF, Walsh LE, Bedoukian E, Jones MC, Harris CJ, Riedhammer KM, Choukair D, Fechner PY, Rutter MM, Hufnagel SB, Roifman M, Kletter GB, Delot E, Vilain E, Lipinski RJ, Vezina CM, Muenke M, Chitayat D. PMID: 31883643; PMCID: PMC7042489.
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PubMed Mentions:
18 Fields:
Translation:
Humans
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Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review. Clin Dysmorphol. 2019 Oct; 28(4):175-183.
Galarreta CI, Wigby KM, Jones MC. PMID: 31162149.
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PubMed Mentions:
2 Fields:
Translation:
Humans
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Mutation update for the SATB2 gene. Hum Mutat. 2019 08; 40(8):1013-1029.
Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Miñaúr S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL. PMID: 31021519.
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PubMed Mentions:
20 Fields:
Translation:
HumansAnimals
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Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor. Cold Spring Harb Mol Case Stud. 2019 06; 5(3).
Tootleman E, Malamut B, Akshoomoff N, Mattson SN, Hoffman HM, Jones MC, Printz B, Shiryaev SA, Grossfeld P. PMID: 31160359; PMCID: PMC6549550.
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PubMed Mentions:
10 Fields:
Translation:
Humans
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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome. Am J Hum Genet. 2019 03 07; 104(3):542-552.
Palmer EE, Hong S, Al Zahrani F, Hashem MO, Aleisa FA, Ahmed HMJ, Kandula T, Macintosh R, Minoche AE, Puttick C, Gayevskiy V, Drew AP, Cowley MJ, Dinger M, Rosenfeld JA, Xiao R, Cho MT, Yakubu SF, Henderson LB, Guillen Sacoto MJ, Begtrup A, Hamad M, Shinawi M, Andrews MV, Jones MC, Lindstrom K, Bristol RE, Kayani S, Snyder M, Villanueva MM, Schteinschnaider A, Faivre L, Thauvin C, Vitobello A, Roscioli T, Kirk EP, Bye A, Merzaban J, Jaremko L, Jaremko M, Sachdev RK, Alkuraya FS, Arold ST. PMID: 30827498; PMCID: PMC6407605.
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PubMed Mentions:
6 Fields:
Translation:
HumansCells
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Whole-exome sequencing reveals novel USP9X variant in female fetus with isolated agenesis of the corpus callosum. Clin Case Rep. 2019 Apr; 7(4):656-660.
Lenberg JL, Pretorius DH, Rupe ES, Jones MC, Ramos GA, Andreasen TS. PMID: 30997057; PMCID: PMC6452501.
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PubMed Mentions:
2
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Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico. NPJ Genom Med. 2019; 4:5.
Scocchia A, Wigby KM, Masser-Frye D, Del Campo M, Galarreta CI, Thorpe E, McEachern J, Robinson K, Gross A, ICSL Interpretation and Reporting Team, Ajay SS, Rajan V, Perry DL, Belmont JW, Bentley DR, Jones MC, Taft RJ. PMID: 30792901; PMCID: PMC6375919.
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PubMed Mentions:
36
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A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis-lymphedema-telangiectasia syndrome. Am J Med Genet A. 2018 12; 176(12):2824-2828.
Wangberg H, Wigby K, Jones MC. PMID: 30549413.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy. Am J Hum Genet. 2018 10 04; 103(4):602-611.
Nguyen TTM, Murakami Y, Wigby KM, Baratang NV, Rousseau J, St-Denis A, Rosenfeld JA, Laniewski SC, Jones J, Iglesias AD, Jones MC, Masser-Frye D, Scheuerle AE, Perry DL, Taft RJ, Le Deist F, Thompson M, Kinoshita T, Campeau PM. PMID: 30269814; PMCID: PMC6174287.
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PubMed Mentions:
24 Fields:
Translation:
HumansCells
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Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature. Eur J Hum Genet. 2018 09; 26(9):1272-1281.
Au PYB, Goedhart C, Ferguson M, Breckpot J, Devriendt K, Wierenga K, Fanning E, Grange DK, Graham GE, Galarreta C, Jones MC, Kini U, Stewart H, Parboosingh JS, Kline AD, Innes AM, Care for Rare Canada Consortium. PMID: 29904177; PMCID: PMC6117294.
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PubMed Mentions:
18 Fields:
Translation:
Humans
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The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections. Cold Spring Harb Mol Case Stud. 2018 06; 4(3).
Sweeney NM, Nahas SA, Chowdhury S, Campo MD, Jones MC, Dimmock DP, Kingsmore SF, RCIGM Investigators. PMID: 29549119; PMCID: PMC5983173.
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PubMed Mentions:
15 Fields:
Translation:
Humans
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Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay. Eur J Hum Genet. 2017 08; 25(8):946-951.
Weiss K, Wigby K, Fannemel M, Henderson LB, Beck N, Ghali N, Study DDD, Anderlid BM, Lundin J, Hamosh A, Jones MC, Ghedia S, Muenke M, Kruszka P. PMID: 28513610; PMCID: PMC5567153.
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PubMed Mentions:
16 Fields:
Translation:
Humans
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A fetal diagnostic center's referral rate for perinatal palliative care. Ann Palliat Med. 2018 Apr; 7(2):177-185.
Marc-Aurele KL, Hull AD, Jones MC, Pretorius DH. PMID: 28595435.
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14 Fields:
Translation:
Humans
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Effect of Surgeon Volume and Craniofacial Fellowship Training on Cleft Palate Complication Rates. Ann Plast Surg. 2017 May; 78(5 Suppl 4):S229-S232.
Schoenbrunner AR, Dalle Ore CL, Lance S, McIntyre J, Jones M, Gosman A. PMID: 28301364.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Incidence of Le Fort Surgery in a Mature Cohort of Patients With Cleft Lip and Palate. Ann Plast Surg. 2017 May; 78(5 Suppl 4):S199-S203.
Dalle Ore C, Schoenbrunner A, Brandel M, Kronstadt N, McIntyre J, Jones M, Gosman A. PMID: 28399025.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Enlarged Cavum Septi Pellucidi and Vergae in the Fetus: A Cause for Concern. J Ultrasound Med. 2017 Aug; 36(8):1657-1668.
Ho YK, Turley M, Marc-Aurele KL, Jones MC, Housman E, Engelkemier D, Romine LE, Khanna PC, Pretorius DH. PMID: 28417514.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn. Am J Med Genet A. 2017 Jun; 173(6):1586-1592.
Wigby K, Twigg SRF, Broderick R, Davenport KP, Wilkie AOM, Bickler SW, Jones MC. PMID: 28386950; PMCID: PMC5933242.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder. Genet Med. 2017 10; 19(10):1179-1183.
Jones MC, Topol SE, Rueda M, Oliveira G, Phillips T, Spencer EG, Torkamani A. PMID: 28383544; PMCID: PMC5629099.
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PubMed Mentions:
4 Fields:
Translation:
Humans
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Evaluation of Ventilation Tube Placement and Long-term Audiologic Outcome in Children With Cleft Palate. Cleft Palate Craniofac J. 2017 11; 54(6):650-655.
Kim E, Kanack MD, Dang-Vu MD, Carvalho D, Jones MC, Gosman AA. PMID: 27441700.
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Humans
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A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. Am J Hum Genet. 2016 06 02; 98(6):1256-1265.
Twigg SRF, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J, Craft J, Taylor JC, Santoro SL, Huang T, Hopkin RJ, Brady AF, Clayton-Smith J, Clericuzio CL, Grange DK, Groesser L, Hafner C, Horn D, Temple IK, Dobyns WB, Curry CJ, Jones MC, Wilkie AOM. PMID: 27236920; PMCID: PMC4908219.
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PubMed Mentions:
40 Fields:
Translation:
HumansCells
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Number of Surgical Procedures for Patients With Cleft lip and Palate From Birth to 21 Years Old at a Single Children's Hospital. Ann Plast Surg. 2016 May; 76 Suppl 3:S205-8.
McIntyre JK, Sethi H, Schönbrunner A, Proudfoot J, Jones M, Gosman A. PMID: 27070669.
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PubMed Mentions:
7 Fields:
Translation:
Humans
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Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene. Am J Med Genet A. 2016 Apr; 170A(4):992-8.
Rosti RO, Dikoglu E, Zaki MS, Abdel-Salam G, Makhseed N, Sese JC, Musaev D, Rosti B, Harbert MJ, Jones MC, Vaux KK, Gleeson JG. PMID: 27001912; PMCID: PMC5011457.
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PubMed Mentions:
17 Fields:
Translation:
HumansCells
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Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis. Am J Med Genet A. 2015 Oct; 167A(10):2440-3.
Overcash RT, Gibu CK, Jones MC, Ramos GA, Andreasen TS. PMID: 26096958.
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PubMed Mentions:
5 Fields:
Translation:
HumansCells
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Immunodeficiency and autoimmune enterocolopathy linked to NFAT5 haploinsufficiency. J Immunol. 2015 Mar 15; 194(6):2551-60.
Boland BS, Widjaja CE, Banno A, Zhang B, Kim SH, Stoven S, Peterson MR, Jones MC, Su HI, Crowe SE, Bui JD, Ho SB, Okugawa Y, Goel A, Marietta EV, Khosroheidari M, Jepsen K, Aramburu J, López-Rodríguez C, Sandborn WJ, Murray JA, Harismendy O, Chang JT. PMID: 25667416; PMCID: PMC4355235.
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PubMed Mentions:
18 Fields:
Translation:
HumansAnimalsCells
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Prenatally diagnosed fetal split-hand/foot malformations often accompany a spectrum of anomalies. J Ultrasound Med. 2014 Jan; 33(1):167-76.
Lu J, Vaidya N, Meng H, Dai Q, Romine LE, Jones MC, Pretorius DH. PMID: 24371113.
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PubMed Mentions:
4 Fields:
Translation:
Humans
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Growth charts for 22q11 deletion syndrome. Am J Med Genet A. 2012 Nov; 158A(11):2672-81.
Tarquinio DC, Jones MC, Jones KL, Bird LM. PMID: 22887711.
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PubMed Mentions:
13 Fields:
Translation:
Humans
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Underlying genetic diagnosis of Pierre Robin sequence: retrospective chart review at two children's hospitals and a systematic literature review. J Pediatr. 2012 Apr; 160(4):645-650.e2.
Izumi K, Konczal LL, Mitchell AL, Jones MC. PMID: 22048048.
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PubMed Mentions:
33 Fields:
Translation:
Humans
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Diagnosis of fetal limb abnormalities before 15 weeks: cause for concern. J Ultrasound Med. 2011 Jul; 30(7):1009-19.
Rice KJ, Ballas J, Lai E, Hartney C, Jones MC, Pretorius DH. PMID: 21705735.
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PubMed Mentions:
6 Fields:
Translation:
Humans
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Evaluation of the fetal secondary palate by 3-dimensional ultrasonography. J Ultrasound Med. 2010 Mar; 29(3):357-64.
Ramos GA, Romine LE, Gindes L, Wolfson T, McGahan MC, D'Agostini D, Lee S, Jones MC, Pretorius DH. PMID: 20194932.
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PubMed Mentions:
2 Fields:
Translation:
Humans
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Developing a national collaborative study system for rare genetic diseases. Genet Med. 2008 May; 10(5):325-9.
Watson MS, Epstein C, Howell RR, Jones MC, Korf BR, McCabe ER, Simpson JL. PMID: 18496030.
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PubMed Mentions:
9 Fields:
Translation:
Humans
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Expanding the phenotype of mosaic trisomy 20. Am J Med Genet A. 2008 Feb 01; 146A(3):330-6.
Willis MJ, Bird LM, Dell'Aquilla M, Jones MC. PMID: 18203170.
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PubMed Mentions:
6 Fields:
Translation:
HumansCells
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Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A. 2007 Dec 15; 143A(24):2963-72.
Moog U, Jones MC, Viskochil DH, Verloes A, Van Allen MI, Dobyns WB. PMID: 18000987.
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PubMed Mentions:
16 Fields:
Translation:
Humans
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Methylthioadenosine phosphorylase (MTAP) in hearing: gene disruption by chromosomal rearrangement in a hearing impaired individual and model organism analysis. Am J Med Genet A. 2007 Jul 15; 143A(14):1630-9.
Williamson RE, Darrow KN, Michaud S, Jacobs JS, Jones MC, Eberl DF, Maas RL, Liberman MC, Morton CC. PMID: 17534888.
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PubMed Mentions:
10 Fields:
Translation:
HumansAnimalsCells
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Facial nerve paralysis: an unrecognized cause of lower eyelid entropion in the pediatric population. Ophthalmic Plast Reconstr Surg. 2007 Mar-Apr; 23(2):126-9.
Pasco NY, Kikkawa DO, Korn BS, Punja KG, Jones MC. PMID: 17413627.
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PubMed Mentions:
2 Fields:
Translation:
Humans
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Koilonychia, dome-shaped epiphyses, and vertebral platyspondylia. J Pediatr. 2005 Jul; 147(1):112-4.
Nguyen V, Buka RL, Roberts B, Jones M, Friedlander SF. PMID: 16027708.
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Humans
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Dizygotic twin pregnancy conceived with assisted reproductive technology associated with chromosomal anomaly, imprinting disorder, and monochorionic placentation. J Pediatr. 2005 Apr; 146(4):565-7.
Yoon G, Beischel LS, Johnson JP, Jones MC. PMID: 15812468.
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PubMed Mentions:
2 Fields:
Translation:
Humans
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Megalourethra: A report of three cases associated with maternal diabetes and a review of the literature--is sonic hedgehog the common pathway? Am J Med Genet A. 2005 Jan 30; 132A(3):314-7.
Vaux KK, Jones MC, Benirschke K, Bird LM, Jones KL. PMID: 15690378.
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Humans
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Developmental outcome in Kabuki syndrome. Am J Med Genet A. 2005 Jan 30; 132A(3):263-4.
Vaux KK, Jones KL, Jones MC, Schelley S, Hudgins L. PMID: 15523636.
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PubMed Mentions:
8 Fields:
Translation:
Humans
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Neonatal phenotype in Kabuki syndrome. Am J Med Genet A. 2005 Jan 30; 132A(3):244-7.
Vaux KK, Hudgins L, Bird LM, Roeder E, Curry CJ, Jones M, Jones KL. PMID: 15690369.
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PubMed Mentions:
9 Fields:
Translation:
Humans
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Marfanoid habitus with abnormal situs. Am J Med Genet A. 2004 Jun 15; 127A(3):310-2.
Kosaki K, Bird LM, Maeda J, Higuchi M, Jones MC, Matsumoto M. PMID: 15150786.
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Humans
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Prenatal diagnosis of cleft lip and palate: detection rates, accuracy of ultrasonography, associated anomalies, and strategies for counseling. Cleft Palate Craniofac J. 2002 Mar; 39(2):169-73.
Jones MC. PMID: 11879073.
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PubMed Mentions:
7 Fields:
Translation:
Humans
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Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol. Am J Med Genet. 2002 Feb 15; 108(1):80-7.
Gripp KW, Scott CI, Nicholson L, McDonald-McGinn DM, Ozeran JD, Jones MC, Lin AE, Zackai EH. PMID: 11857556.
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PubMed Mentions:
32 Fields:
Translation:
HumansPHPublic Health