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Free Subscription Articles published in Am J Med Genet Retrieve available abstracts of 83 articles: HTML format

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December 2004
1. FAZZI E , Signorini SG, Uggetti C, Bianchi PE, et al
   Towards improved clinical characterization of Leber congenital amaurosis: Neurological and systemic findings.
   Am J Med Genet 2004;.
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2. ZENKER M , Wermuth B, Trautmann U, Knerr I, et al
   Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11).
   Am J Med Genet 2004;.
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   November 2004
3. ABRAMOWICZ MJ , Ribai P, Cordonnier M
   Congenital stationary night blindness: Report of an autosomal recessive family and linkage analysis.
   Am J Med Genet 2004;.
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4. EDISON RJ , Muenke M
   Mechanistic and epidemiologic considerations in the evaluation of adverse birth outcomes following gestational exposure to statins.
   Am J Med Genet 2004;.
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   October 2004
5. NARKIS G , Landau D, Manor E, Elbedour K, et al
   Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13.
   Am J Med Genet 2004;130A:272.
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6. CHIURAZZI P , Bajer J, Tabolacci E, Pomponi MG, et al
   Assisted reproductive technology and congenital overgrowth: Some speculations on a case of Pallister-Killian syndrome.
   Am J Med Genet 2004;130A:315.
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7. SATO K , Uehara S, Hashiyada M, Nabeshima H, et al
   Genetic significance of skewed X-chromosome inactivation in premature ovarian failure.
   Am J Med Genet 2004;130A:240.
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   September 2004
8. MYERS SM , Challman TD
   Congenital heart defects associated with Smith-Magenis syndrome: Two cases of total anomalous pulmonary venous return.
   Am J Med Genet 2004;.
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9. BOTT L , Boute O, Mention K, Vinchon M, et al
   Congenital idiopathic intestinal pseudo-obstruction and hydrocephalus with stenosis of the aqueduct of sylvius.
   Am J Med Genet 2004;130A:84.
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10. LEAUTE-LABREZE C , Boralevi F, Cony M, Maleville J, et al
    Self-healing congenital verruciform hyperkeratosis.
    Am J Med Genet 2004;.
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11. SHANSKE AL , Edelmann L, Kardon NB, Gosset P, et al
    Detection of an interstitial deletion of 2q21-22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translocation.
    Am J Med Genet 2004;.
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12. KENT A , Simpson E, Ellwood D, Silink M, et al
    46,XY sex-reversal (Swyer syndrome) and congenital diaphragmatic hernia.
    Am J Med Genet 2004;.
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13. TONNIES H
    Comments on "congenital Diaphragmatic Hernia: Is 15q26.1-26.2 a candidate locus?"
    Am J Med Genet 2004;.
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14. TAMAME T , Hori N, Homma H, Yoshida R, et al
    Hyperinsulinemic hypoglycemia in a newborn infant with trisomy 13.
    Am J Med Genet 2004;129A:321-2.
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15. CROW YJ , Massey RF, Innes JR, Pairaudeau PW, et al
    Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutieres syndrome.
    Am J Med Genet 2004;129A:303-7.
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16. CRIADO GR , Gonzalez-Meneses A, Canadas M, Rafel E, et al
    Infantile systemic hyalinosis: A clinicopathological study.
    Am J Med Genet 2004;129A:282-5.
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    August 2004
17. KLINE AD , Griffin CA, Haddadin MH, Chudoba I, et al
    A de novo complex karyotype with two independent balanced translocations and a double inversion of chromosome 6 presenting with multiple congenital anomalies.
    Am J Med Genet 2004;129A:124-9.
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18. KROES HY , Olney RS, Rosano A, Liu Y, et al
    Renal defects and limb deficiencies in 197 infants: Is it possible to define the "acrorenal syndrome"?
    Am J Med Genet 2004;129A:149-55.
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19. HOU JW
    Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2).
    Am J Med Genet 2004;130A:200.
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20. ZENKER M , Tralau T, Lennert T, Pitz S, et al
    Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: An autosomal recessive syndrome.
    Am J Med Genet 2004;130A:138.
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21. WHITELAW CM , Anwar S, Ades LC, Gole GA, et al
    Primary trabeculodysgenesis in association with neonatal Marfan syndrome.
    Am J Med Genet 2004;128A:418-21.
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22. FORRESTER MB , Merz RD
    Impact of excluding cases with known chromosomal abnormalities on the prevalence of structural birth defects, Hawaii, 1986-1999.
    Am J Med Genet 2004;128A:383-8.
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23. RITA G , Daniele de B, Anna C, Annamaria B, et al
    Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype.
    Am J Med Genet 2004;128A:422-8.
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    July 2004
24. LOSCALZO ML , Galczynski RL, Hamosh A, Summar M, et al
    Interstitial deletion of chromosome 2q32-34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency).
    Am J Med Genet 2004;128A:311-5.
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25. PINTER R , Hogge WA, McPherson E
    Infant with severe penicillamine embryopathy born to a woman with Wilson disease.
    Am J Med Genet 2004;128A:294-8.
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26. DERBENT M , Agras PI, Gedik S, Oto S, et al
    Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: Report and review of Micro syndrome.
    Am J Med Genet 2004;128A:232-4.
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27. STASHINKO EE , Clegg NJ, Kammann HA, Sweet VT, et al
    A retrospective survey of perinatal risk factors of 104 living children with holoprosencephaly.
    Am J Med Genet 2004;128A:114-9.
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28. ENG B , Heshka T, Tarnopolsky MA, Nakamura LM, et al
    Infantile metachromatic leukodystrophy (MLD) in a compound heterozygote for the c.459 + 1G > A mutation and a complete deletion of the ARSA gene.
    Am J Med Genet 2004;128A:95-7.
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29. YOSHIDA R , Miyata M, Nagai T, Yamazaki T, et al
    A 3-bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia.
    Am J Med Genet 2004;128A:63-6.
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30. GIUFFRE M , Sammarco P, Fabiano C, Giardina F, et al
    Identification of a new nonsense mutation (Tyr129Stop) of the SRY gene in a newborn infant with XY sex-reversal.
    Am J Med Genet 2004;128A:46-7.
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    June 2004
31. GHADAMI M , Majidzadeh-A K, Morovvati S, Damavandi E, et al
    Isolated congenital anosmia with morphologically normal olfactory bulb in two Iranian families: A new clinical entity?
    Am J Med Genet 2004;127A:307-9.
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32. OKTENLI C , Gul D, Deveci MS, Saglam M, et al
    Unusual features in a patient with neurofibromatosis type 1: Multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidney.
    Am J Med Genet 2004;127A:298-301.
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33. DUFKE A , Riethmuller J, Enders H
    Severe congenital myopathy with Mobius, Robin, and Poland sequences: New aspects of the Carey-Fineman-Ziter syndrome.
    Am J Med Genet 2004;127A:291-3.
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34. VAN DOOREN MF , Brooks AS, Hoogeboom AJ, Van Den Hoonaard TL, et al
    Early diagnosis of Wolf-Hirschhorn syndrome triggered by a life-threatening event: Congenital diaphragmatic hernia.
    Am J Med Genet 2004;127A:194-6.
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35. IKEUCHI T , Yang ZQ, Wakamatsu K, Kajii T, et al
    Induction of premature chromatid separation (PCS) in individuals with PCS trait and in normal controls.
    Am J Med Genet 2004;127A:128-32.
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    May 2004
36. ASAMOAH A , Nwankwo M, Kumar SP, Ezhuthachan SG, et al
    Proximal chromosome 8q deletion in a boy with femoral bifurcation and other multiple congenital anomalies.
    Am J Med Genet 2004;127A:65-8.
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37. MEINS M , Bohm D, Grossmann A, Herting E, et al
    First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter --> q22.1::q22.1 --> pter) Is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q- syndrome.
    Am J Med Genet 2004;127A:58-64.
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38. KATO R , Kawamura J, Sugawara H, Niikawa N, et al
    A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy.
    Am J Med Genet 2004;127A:54-7.
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39. BURD L , Wilson H
    Fetal, infant, and child mortality in a context of alcohol use.
    Am J Med Genet 2004;127C:51-8.
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40. STOLER JM , Holmes LB
    Recognition of facial features of fetal alcohol syndrome in the newborn.
    Am J Med Genet 2004;127C:21-7.
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41. KAJII T , Ikeuchi T
    Premature chromatid separation (PCS) vs. premature centromere division (PCD).
    Am J Med Genet 2004;126A:433-4.
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42. KAJII T , Asamoto A
    Prenatal diagnosis of a heterozygous carrier of premature chromatid separation (PCS) trait.
    Am J Med Genet 2004;126A:432.
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    April 2004
43. VOLCIK KA , Zhu H, Finnell RH, Shaw GM, et al
    Evaluation of the Cited2 gene and risk for spina bifida and congenital heart defects.
    Am J Med Genet 2004;126A:324-5.
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44. THAUVIN-ROBINET C , Faivre L, Cusin V, Khau Van Kien P, et al
    Cloacal exstrophy in an infant with 9q34.1-qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq.
    Am J Med Genet 2004;126A:303-7.
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45. ZAND DJ , Huff D, Everman D, Russell K, et al
    Autosomal dominant inheritance of infantile myofibromatosis.
    Am J Med Genet 2004;126A:261-6.
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46. MACHADO-FERREIRA MD MDO C , Costa-Lima MA, Boy RT, Esteves GS, et al
    Premature ovarian failure and FRAXA premutation: Positive correlation in a Brazilian survey.
    Am J Med Genet 2004;126A:237-40.
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47. VOLCIK KA , Zhu H, Finnell RH, Shaw GM, et al
    Evaluation of the jumonji gene and risk for spina bifida and congenital heart defects.
    Am J Med Genet 2004;126A:215-7.
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48. KAMMOUN F , Tanguy A, Boesplug-Tanguy O, Bensahel H, et al
    Club feet with congenital perisylvian polymicrogyria possibly due to bifocal ischemic damage of the neuraxis in utero.
    Am J Med Genet 2004;126A:191-6.
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49. BIGGIO JR JR , Descartes MD, Carroll AJ, Holt RL, et al
    Congenital diaphragmatic hernia: Is 15q26.1-26.2 a candidate locus?
    Am J Med Genet 2004;126A:183-5.
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50. METZKE-HEIDEMANN S , Kuhling-von Kaisenberg H, Caliebe A, Janssen D, et al
    Phenotypical variation in cousins with the identical partial trisomy 9 (pter-q22.2) and 7 (q35-qter) at 16 and 23 weeks gestation.
    Am J Med Genet 2004;126A:197-203.
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51. WOO HH , Lo IF, Tse HY, Lam ST, et al
    XX-agonadism in a fetus with multiple congenital anomalies.
    Am J Med Genet 2004;126A:104-5.
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52. HE J , McDermott DA, Song Y, Gilbert F, et al
    Preimplantation genetic diagnosis of human congenital heart malformation and Holt-Oram syndrome.
    Am J Med Genet 2004;126A:93-8.
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53. TREDANO M , Griese M, Brasch F, Schumacher S, et al
    Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease.
    Am J Med Genet 2004;126A:18-26.
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    March 2004
54. SHAW GM , Carmichael SL, Yang W, Harris JA, et al
    Congenital malformations in births with orofacial clefts among 3.6 million California births, 1983-1997.
    Am J Med Genet 2004;125A:250-6.
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55. ROMAN CORONA-RIVERA J , Corona-Rivera E, Fragoso-Herrera R, Nuno-Arana I, et al
    Probable new syndrome in a Mexican family with congenital palmar polyonychia and postaxial limb defects.
    Am J Med Genet 2004;125A:205-9.
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    February 2004
56. DENT KM , Kenneson A, Palumbos JC, Maxwell S, et al
    Methodology of a multistate study of congenital hearing loss: Preliminary data from Utah newborn screening.
    Am J Med Genet 2004;125C:28-34.
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57. BOTTO LD , Olney RS, Erickson JD
    Vitamin supplements and the risk for congenital anomalies other than neural tube defects.
    Am J Med Genet 2004;125C:12-21.
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58. DOLK H
    Epidemiologic approaches to identifying environmental causes of birth defects.
    Am J Med Genet 2004;125C:4-11.
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59. RASMUSSEN SA , Moore CA
    Public health approach to birth defects, developmental disabilities, and genetic conditions.
    Am J Med Genet 2004;125C:1-3.
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60. COMEAU AM , Larson C, Eaton RB
    Integration of new genetic diseases into statewide newborn screening: New England experience.
    Am J Med Genet 2004;125C:35-41.
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61. STEVENS CA , Dobyns WB
    Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis.
    Am J Med Genet 2004;125A:12-6.
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    January 2004
62. HAPPLE R
    What is IFAP syndrome?
    Am J Med Genet 2004;124A:328.
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63. MEGARBANE H , Zablit C, Waked N, Lefranc G, et al
    Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review.
    Am J Med Genet 2004;124A:323-7.
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64. OSTERGAARD E , Pedersen VF, Skriver EB, Brondum-Nielsen K, et al
    Brothers with Chudley-McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities.
    Am J Med Genet 2004;124A:74-8.
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65. LEMIRE BD , Buncic JR, Kennedy SJ, Dyack SJ, et al
    Congenital mydriasis, patent ductus arteriosus, and congenital cystic lung disease: New syndromic spectrum?
    Am J Med Genet 2004;.
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66. WANG Z , Li Q, Huang GS, Liu SJ, et al
    Clinical report of congenital lymphatic malformations and partial gigantism of the hands associated with a heterogeneous karyotype.
    Am J Med Genet 2004;.
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67. MELEGH B , Bene J, Mogyorosy G, Havasi V, et al
    Phenotypic manifestations of the OCTN2 V295X mutation: Sudden infant death and carnitine-responsive cardiomyopathy in Roma families.
    Am J Med Genet 2004;.
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68. ZAGLIA F , Zaffanello M, Biban P
    Unexpected death due to refractory metabolic acidosis and massive hemolysis in a young infant with Prader-Willi syndrome.
    Am J Med Genet 2004;.
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69. MEHRAEIN Y , Ehlhardt S, Wagner A, Gottert E, et al
    Somatic mosaicism of chromosome 7 in a highly proliferating melanocytic congenital naevus in a ring chromosome 7 patient.
    Am J Med Genet 2004;.
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    November 2003
70. JENNINGS JE , Costigan C, Reardon W
    Moebius sequence and hypogonadotrophic hypogonadism.
    Am J Med Genet 2003;123A:107-10.
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    October 2003
71. HUMMEL M , Cunningham D, Mullett CJ, Kelley RI, et al
    Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene.
    Am J Med Genet 2003;122A:246-51.
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72. FRANCESCHINI P , Guala A, Licata D, Botta G, et al
    Gershoni-Baruch syndrome: report of a new family confirming autosomal recessive inheritance.
    Am J Med Genet 2003;122A:174-9.
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    August 2003
73. EI-KABBANY Z , Rashad M, Tareef R, Galal N, et al
    Dorfman-Chanarin syndrome in Egypt.
    Am J Med Genet 2003;121A:75-8.
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74. SCHWEIGER S , Chaoui R, Tennstedt C, Lehmann K, et al
    Antenatal onset of cortical hyperostosis (Caffey disease): case report and review.
    Am J Med Genet 2003;120A:547-52.
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    July 2003
75. BEGHINI A , Castorina P, Roversi G, Modiano P, et al
    RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient.
    Am J Med Genet 2003;120A:395-9.
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76. WONG LJ , Alper OM, Wang BT, Lee MH, et al
    Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations.
    Am J Med Genet 2003;120A:296-8.
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77. ALPER OM , Wong LJ, Hostetter G, Cook J, et al
    1154insTC is not a rare CFTR mutation.
    Am J Med Genet 2003;120A:294-5.
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78. TAUB PJ , Bradley JP, Setoguchi Y, Schimmenti L, et al
    Typical facial clefting and constriction band anomalies: an unusual association in three unrelated patients.
    Am J Med Genet 2003;120A:256-60.
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79. ITIN PH , Moschopulos M, Richard G
    Reticular erythrokeratoderma: a new disorder of cornification.
    Am J Med Genet 2003;120A:237-40.
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80. GORDON C , Walpole I, Zubrick SR, Bower C, et al
    Population screening for cystic fibrosis: knowledge and emotional consequences 18 months later.
    Am J Med Genet 2003;120A:199-208.
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81. HOLVE S , Friedman B, Hoyme HE, Tarby TJ, et al
    Athabascan brainstem dysgenesis syndrome.
    Am J Med Genet 2003;120A:169-73.
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82. HYLAND VJ , Robertson SP, Flanagan S, Savarirayan R, et al
    Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.
    Am J Med Genet 2003;120A:157-68.
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    May 2003
83. ORMOND KE , Mills PL, Lester LA, Ross LF, et al
    Effect of family history on disclosure patterns of cystic fibrosis carrier status.
    Am J Med Genet 2003;119C:70-7.
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