Sabtu, 21 Januari 2012

Pengumuman,.,.,,.,.!!!!! Kelas A

TUGAS  MEMBUAT MAKALAH GENETIKA MEDIK 

Kepada seluruh mahasiswa semester Gasal 2012/2013 kelas A untuk membuat makalah (dengan bahasa Indonesia) dengan TOPIK yang sudah ditentukan di bawah ini, dengan ketentuan sbb:
1.     Tugas membuat makalah adalah tugas perorangan dan bukan tugas kelompok.
2.    Tiap 5 mahasiswa mendapat judul/topik yang sama.
3.    Jurnal yang menjadi referensi adalah jurnal tahun 2005 sampai dengan 2012.
4.    Makalah dikumpulkan paling lambat tgl 14 Januari 2013 jam 14.00. Melewati waktu yang ditentukan, tugas tidak akan diterima.
5.    Selain makalah, jurnal yang menjadi bahan referensi harus disertakan/dikumpulkan.
6.    Mahasiswa yang tidak mengumpulkan tugas, TIDAK mendapat nilai tugas sebagai salah satu poin yang diperhitungkan dalam Nilai Akhir.
7.    Makalah tidak boleh copy-paste milik mahasiswa lain dengan topik yang sama. Apabila ditemukan dua atau lebih makalah dengan topik/judul dan kalimat-kalimat yang sama persis, maka kedua makalah tidak akan dinilai.
8.    Bagi mahasiswa yang menggunakan fasilitas Google translate, harus meng-edit tulisannya, sehingga kalimatnya mudah dimengerti.


NO URUT ABSENSI
TOPIK
1 – 5
DOWN SYNDROME
6 – 10
TURNER SYNDROME
11 – 15
KLINEFELTER SYNDROME
16 – 20
ANGELMAN SYNDROME
21 – 25
PRADER WILLI SYNDROME
26 – 30
CRI DU CHAT SYNDROME
31 – 35
FRAGILE X SYNDROME
36 – 40
HEMOPHILIA 
41 – 45
THALASSEMIA ALPHA
46 – 50
THALASSEMIA BETA
51 – 55
DUCHENNE MUSCULAR DYSTROPHY
56 – 60
XX MALE
61 – 65
XY FEMALE
66 – 70
CONGENITAL ADRENAL HYPERPLASIA (CAH)
71 – 75
COMPLETE ANDROGEN INSENSITIVITY SYNDROME (CAIS)
76 – 80
PRENATAL DIAGNOSIS
81 – 85
GENETIC COUNSELING
86 – 90
47,XYY
91 – 95
AUTISM
96 – 100
ALZHEIMER
101 – 105
MARFAN SYNDROME
106 – 110
HUNTINGTON DISEASE
11 1 – 115
MYOTONIC DYSTROPHY
116 – 120
BECKER MUSCULAR DYSTROPHY
121 – 125
Y CHROMOSOME MICRODELETION
126 - 127
CHROMOSOME ABBERATION AND MENTAL RETARDATION

NO URUT ABSENSI
TOPIK
128 – 132
DOWN SYNDROME
133 – 137
TURNER SYNDROME
138 – 142
KLINEFELTER SYNDROME
143 – 147
ANGELMAN SYNDROME
148 – 152
PRADER WILLI SYNDROME
153– 157
CRI DU CHAT SYNDROME
158 – 162
FRAGILE X SYNDROME
163 – 167
HEMOPHILIA 
168 – 172
THALASSEMIA ALPHA
173 – 177
THALASSEMIA BETA
178 – 182
DUCHENNE MUSCULAR DYSTROPHY
183 – 187
XX MALE
188 – 192
XY FEMALE
193 – 197
CONGENITAL ADRENAL HYPERPLASIA (CAH)
198 – 202
COMPLETE ANDROGEN INSENSITIVITY SYNDROME (CAIS)
203 – 207
PRENATAL DIAGNOSIS
208 –212
GENETIC COUNSELING
213 – 217
47,XYY
218 – 222
AUTISM
223 – 227
ALZHEIMER
228 – 232
MARFAN SYNDROME
233 – 237
HUNTINGTON DISEASE
238 – 242
MYOTONIC DYSTROPHY
243 – 247
BECKER MUSCULAR DYSTROPHY
248 – 252
Y CHROMOSOME MICRODELETION
253 - 254
CHROMOSOME ABBERATION AND MENTAL RETARDATION


83 komentar:

  1. kelas A baru di suru besog

    cuma di kasikan skarang

    BalasHapus
  2. Nama zindy mm
    Npm 11700151
    Jurnal 1 : prader willi syndrome
    2 : periodontal disease in a patient with prader will syndrome cases report

    BalasHapus
  3. nama : AULIY SULVIA
    NPM : 11700447
    JURNAL MG :
    1. Genetic screening and couseling:family medicine obstetrics
    2. contemporary genetic counseling
    3. geetic counseling and genetic testing in hereditary gastrointestinal cancer syndromes
    4. reproductive decisions after fetal genetic counseling
    5. familial syndrome with an X,Y translocation mosaicism: implications for genetic couseling.
    boking 5 dulu yaa masih bingung n blum baca,, aku harap jangan sama dulu hee

    BalasHapus
  4. NI LUH AYU SUMBAWATI 11700305
    ANGLMAN SYNDROME (AS,MIM 105830)

    KETUT DIAN TINI (11700303)
    OSTEOPOROSIS I KLINERFILTER SYDROME

    BalasHapus
  5. A A SINTA WIDIANI (11700301)
    KLINEFLTER SYNDROME AND OTHER SEX CHROMOSOMAL ANEUPLOIDES

    BalasHapus
  6. BARZAT AUDI
    11700251
    " Genetic diagnosis of Duchenne and Becker
    muscular dystrophy using next-generation
    sequencing technology: comprehensive
    mutational search in a single platform "

    BalasHapus
  7. NURHAFIDA BINTI DARKUTNI
    11700007
    Care of Girls and Women with Turner Syndrome: A
    Guideline of the Turner Syndrome Study Group.

    BalasHapus
    Balasan
    1. maaf, yang di atas tidak dipakai, jd yang ini
      "Issues in prenatal counseling and
      diagnosis in Turner Syndrome"

      Hapus
  8. I PUTU PRAYOGA TENAYA
    11700031
    ANGELMAN SYNDROME
    EPILEPSY IN PATIENS WITH ANGELMAN SINDROME

    BalasHapus
  9. I Gusti Agung Ngurah Yoga Wiradharma
    11700201
    Theoretical aspects of autism: Causes—A review

    BalasHapus
  10. I. B. Jumpung Gd. Sunu A. Wedhana
    11700017
    "Turner Syndrome" by Ravinder K Gupta, Ritu Gupta, Sunil Dutt Sharma.

    BalasHapus
  11. NI MADE RATNA ANGGRENI
    11700193
    47,XYY
    Ring chromosome 13 syndrome characterized by
    high resolution array based comparative genomic
    hybridization in patient with 47, XYY syndrome: a
    case report

    BalasHapus
    Balasan
    1. RALAT INI YANG SAYA

      Diagnosis and mortality in 47,XYY persons: a
      registry study

      Hapus
  12. I Made Dwi Hendrayana Surya
    11700073
    2011"A

    topik:FRAGILE X SYNDROME
    JUDUL:Genetic Counseling for Fragile X Syndrome: Updated
    Recommendations of the National Society of
    Genetic Counselors

    BalasHapus
    Balasan
    1. Genetik Konseling untuk Sindrom Fragile X: Diperbaharui
      Rekomendasi dari Masyarakat Nasional
      Konselor genetik

      Hapus
  13. ANIS S
    11700179
    2011-A
    TOPIK : GENETIC COUNSELING
    JUDUL :
    Risk Assessment and Genetic Counseling for Hereditary Breast and Ovarian Cancer : Recommendations of the National Society of Genetic Counselors

    BalasHapus
  14. - HAIFA MARAYA
    - 11700043
    - 2011 A
    - 21 – 25 PRADER WILLI SYNDROME
    "Children with Prader–Willi syndrome exhibit more evident
    meal-induced responses in plasma ghrelin and peptide
    YY levels than obese and lean children"

    BalasHapus
  15. I Made Maha Candra B18 Desember 2012 pukul 19.12

    Nama : I Made Maha Candra Budaya
    NPM : 11700141
    No Urut : 64
    Topik : XY FEMALE
    Judul : A 46,XY Female DSD Patient with Bilateral
    Gonadoblastoma, a Novel SRY Missense Mutation
    Combined with a WT1 KTS Splice-Site Mutation

    BalasHapus
  16. RALAT RATNA ANGGRENI18 Desember 2012 pukul 20.00

    2. Diagnosis and mortality in 47,XYY persons: a
    registry study

    BalasHapus
  17. I putu sejiwan
    11700175
    Pengaruh Konseling Genetik pada Tingkat Depresi terhadap
    Penentuan Gender Ambigus Genitalia

    BalasHapus
    Balasan
    1. jurnal internasional lalu di translitkan wan..

      Hapus
  18. febriliana
    11700229
    Huntington’s disease: a clinical review
    by. Raymund AC Roos

    BalasHapus
  19. nama : novia handaini
    npm : 11700005
    judul:Hyperthyroidism in Down Syndrome

    BalasHapus
  20. YENNI P.S.
    11700267
    2011A
    127 - CHROMOSOME ABBERATION AND MENTAL RETARDATION
    "Main chromosome aberrations among 4617
    chromosomal studies at a third level pediatric Mexican
    hospital in 19 years period of time"

    BalasHapus
  21. Nama : I Made Eryana
    NPM : 11700145
    No Urut : 66
    Topik : CONGENITAL ADRENAL HYPERPLASIA (CAH)
    Judul : Growth and Reproductive Outcomes in Congenital Adrenal Hyperplasia

    BalasHapus
  22. Nama : Ayu Diah Permata Sari
    NPM : 11700283
    No. Urut : 133
    Judul : Growth Hormone plus Childhood Low-Dose
    Estrogen in Turner’s Syndrome

    BalasHapus
  23. nama : laily adha
    npm : 11700155
    no. urut : 71
    topik : complete androgen insensitivity syndrome (CAIS)
    judul : Comparison of bone mineral density and body proportions
    between women with complete androgen insensitivity
    syndrome and women with gonadal dysgenesis

    BalasHapus
  24. 2. Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia

    BalasHapus
    Balasan
    1. nama : i made eryana
      ini punyaku yang kedua, yg diatas ga jadi..

      Hapus
  25. nama : faizal fahmi
    npm : 11700149
    no urut : 68
    topik : congenital adrenal hyperplasia (CAH)
    judul : Prevalence of testicular adrenal rest tumours in male children
    with congenital adrenal hyperplasia due to 21-hydroxylase
    deficiency

    BalasHapus
  26. nama : raras olivia cindy
    npm:11700221
    nomer urut : 104
    topik: marfan syndrome
    judul: Reimplantation Valve-Sparing Aortic Root
    Replacement in Marfan Syndrome Using
    the Valsalva Conduit: An Intercontinental
    Multicenter Study

    BalasHapus
  27. NAMA : NYOMAN TITAMARITA TRISNAWAN
    NPM : 11700139
    NOMOR URUT :63
    61-65
    188-192
    TOPIK = XY FEMALE

    JUDUL: SRY (SEX DETERMINING REGIONS IN Y) BASIS OF SEX REVERSAL IN XY FEMALES

    BalasHapus
  28. NAMA :IPUTU ARIS GOVINDHA P
    NPM :11700063
    NO URUT :27
    TOPIK :CRI DU CHAT SYNDROME

    JUDUL :Cri Du Chat Syndrome-A rare genetic disorder: An overview

    BalasHapus
    Balasan
    1. NAMA :IPUTU ARIS GOVINDHA P
      NPM :11700063
      NO URUT :27
      TOPIK :CRI DU CHAT SYNDROME

      JUDUL : Cri du Chat Syndrome and Congenital Heart Disease: A Review of Previously
      Reported Cases and Presentation of an Additional 21 Cases From the Pediatric Cardiac Care Consortium

      Hapus
    2. ini gak jadi sama kayak meik sari bos

      Hapus
    3. yg dipake yang judulnya lebih puanjang yg duluan udah ad yang sama soalnya : )

      Hapus
  29. NAMA :YUNI ARIANI
    NPM : 11700263
    NO URUT : 125
    TOPIK : Y CHROMOSOME MICRODELETION
    JUDUL :
    1) chromosome 1p and 11q deletions and outcome in neuroblastoma
    2) A 15q13.3 microdeletion segregating with autism

    BalasHapus
  30. Nama : ANDANI PUTRI BUDI ARTI
    NPM : 11700223
    No. Urut : 105
    Topik : Marfan Syndrome
    Judul : Abdominal visceral findings in patients with Marfan
    syndrome

    BalasHapus
    Balasan
    1. RALAT !!!
      Angiotensin II Blockade and Aortic-Root Dilation in Marfan’s Syndrome

      Hapus
  31. Nama : Zindy m.m
    Npm : 11700151
    No urut : 69
    Topik : congenital adrenal hyperplasia
    Judul : growth in congenital adrenal hyperplasia

    BalasHapus
  32. Indah Ayu Kartiksari
    11700371
    beta-thalasemia minor during pregnancy

    I Gd Andrika Indrayoga
    11700369
    Renal functions in pediatric patients with beta-thalasssemia

    BalasHapus
  33. Nama : Marco Filano
    NPM : 11700097

    1. α-Thalassemia, Mental Retardation, and Myelodysplastic Syndrome
    2. Alpha thalassemia major—new mutations,intrauterine management, and outcomes

    BalasHapus
  34. nama : mishbahul wathoniyah
    npm : 11700109
    no urut : 50
    kelomok dg topik :thalasemia beta no urut :46-50
    judul :EFFECT OF DIFFERENT MODALITIES OF CHELATION IN
    BETA THALASSEMIA

    BalasHapus
  35. Nama : Dipta byp
    npm : 11700219

    Marfan syndrome: clinical diagnosis and
    management

    BalasHapus
  36. nama: tutut rachmawati
    npm: 11700083
    tema: hemopholiamophilia
    jurnal MG:prophylaxis versus treatment to prevent joint dise in boys with severe he

    BalasHapus
  37. nama:gati setiadianti
    nmp: 11700121
    judul :coginetal and adptiv deficites in young children with duchenne muscular dysthropy

    BalasHapus
  38. nama : meik sari
    nmp : 11700327
    judul : cri du chat syndrome a rare genetic disorder an overview

    BalasHapus
  39. ULFATUS SANGADAH SEPTIYANI
    11700171
    Judul:
    Prenatal diagnosis of achondrogenesis type I

    BalasHapus
  40. NAMA: NURI Amini
    NPM: 11700163
    NO URUT Absen: 75
    JUDUL Jurnal:
    1. lengkap androgen ketidakpekaan Syndrome.
    2. . androgen Sindrom insensitivitas
    3.Timing of gonadectomy in adult women with complete androgen
    insensitivity syndrome (CAIS): patient preferences and clinical
    evidence

    BalasHapus
  41. Nama : I Putu Krisna Murti
    npm : 11700345
    kelas 2011 C
    Topik : Hemophilia
    Judul Jurnal : "Anti-Inhibitor Coagulant Complex
    Prophylaxis in Hemophilia with Inhibitors"

    BalasHapus
  42. nama : luh putu prisillia k devi
    npm : 11700401
    kelas : 2011 C
    topik : XY Female
    judul : genetic analysis of a family with 46 XY female associated with infertility

    BalasHapus
  43. Yang diatas ga jadi
    Nama : I Made Eryana
    NPM : 11700145
    No Urut : 66
    Topik : CONGENITAL ADRENAL HYPERPLASIA (CAH)
    Judul : 1. Early androgen exposure modulates spatial cognition in
    congenital adrenal hyperplasia (CAH)
    2. Normal Intelligence in Female andMale Patients with
    Congenital Adrenal Hyperplasia

    3. Testicular Adrenal Rest Tumors in Patients with
    Congenital Adrenal Hyperplasia

    BalasHapus
  44. Nama : Linda Purwasih
    NPM: 11700391
    No.urut:184
    Topik: XX male
    judul :XX males SRY negatives: a confirmed cause of infertility

    BalasHapus
  45. Nama : Luqman Yuwono
    Npm : 11700297
    Kelas 2011 C
    No urut : 139
    Topik : KLINEFELTER SYNDROME
    JUdul Jurnal : Social Behavior and Autism Traits in a Sex Chromosomal
    Disorder: Klinefelter (47XXY) Syndrome

    BalasHapus
  46. nama : jhelma amiko
    npm : 11700351
    no.urut : 166
    topik : hemofilia
    judul : alternative strategies for gen therapy of hemophilia

    BalasHapus
  47. Nama : Ketut Dian Tini
    Npm : 11700303
    Kelas 2011 C
    Topik : KLINEFELTER SYNDROME
    JUdul Jurnal : KLINEFELTER'S SYNDROME (XXY) AS A GENETIC MODEL FOR PSYCHOTIC DISORDERS

    # Teman -teman aku pake yang ini!!!!! #

    BalasHapus
  48. Nama : I Putu Gede Windiana Putra
    Npm : 11700115
    Kelas : 2011 A
    Topik : duchnee muscular dystrophy
    Judul : duchnee muscular dystrophy:Focus on pharmaceuticaland nutritional interventions

    BalasHapus
    Balasan
    1. ralat...
      judul : Poor Facial Affect Recognition Among Boys with Duchenne
      Muscular Dystrophy

      Hapus
    2. judul 2 : Impact of Bisphosphonates on Survival for Patients With Duchenne Muscular Dystrophy

      Hapus
    3. judul 3 : Mutation and haplotype analysis for Duchenne muscular
      dystrophy by single cell multiple displacement amplification

      Hapus
  49. Ralat !!
    Nama : Sri Wahyuni
    Npm : 11700085
    kelas : 2011 A
    topik : Hemophilia
    judul : International recommendations on the diagnosis and treatment of patients with acquired hemophilia A

    BalasHapus
  50. Nama : Heydar Patria Wardana
    Npm : 1700329
    Kelas: 2011 A
    Topik: cri du chat syndrome
    judul: Educational Priorities for Children with Cri-Du-Chat Syndrome

    BalasHapus
  51. Nama:I Made Dwi Laksemana Putra
    NPM :11700197
    Kelas :2011a
    Topik :autism
    Judul :Early Autism Detection: Are We Ready for Routine
    Screening?

    BalasHapus
  52. RALATT
    NI LUH AYU SUMBAWATI
    11700305
    2011C
    TOPIK: ANGELMAN SYDROME
    JUDUL JURNAL : ABNORMAL MYELINATION IN ANGELMAN SYNDROME
    jangan di samain ya

    BalasHapus
  53. i gusti ngurah putu sugiartha putra6 Januari 2013 pukul 13.56

    nama : i gusti ngurah putu sugiartha putra
    npm : 11700225
    judul : Striatal degeneration impairs language learning:
    evidence from Huntington’s disease

    BalasHapus
  54. NAMA : A.A OKA SHINDU PHALGUNA
    NPM : 11700185
    TOPIK : 47,XYY
    JUDUL : Male infertility related to an aberrant karyotype, 47,XYY: four case reports

    BalasHapus
    Balasan
    1. ralat : Embryo with XYY syndrome presenting with clubfoot: a case report

      Hapus
  55. Nama : Tina Maulina
    Npm : 11700441
    No.urut: 207
    Topik : PRENATAL DIAGNOSIS
    Judul. : Optimising prenatal diagnosis of down's syndrome

    BalasHapus
    Balasan
    1. RALAT !!!!!!!
      ganti judul : Genetic considerations in the prenatal diagnosis
      of overgrowth syndromes

      Hapus
    2. RALAT !!!!
      ganti judul (lagi): Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA

      Hapus
  56. Elsya Natalia Pariury
    Npm : 11700079
    No.urut : 35
    Topik : fragile x syndrome
    Judul jurnal : a nonsense mutation in FMR1 causing fragile x syndrome

    BalasHapus
  57. NAMA: KADEK ADI SUHARSANA
    NPM:11700147
    TOPIK: CAH
    JUDUL: APPROACH TO THE ADULT WITH CONGENITAL ADRENAL HYPERPLASIA DUE TO 21- HYDROXYLASE DEFICIENCY

    BalasHapus
  58. NAMA: JEVELIN HOESADA
    NPM: 08700300
    TOPIK: MARFAN SYNDROME
    JUDUL: AlTERATIONS OF THE THORACIC SPINE IN MARFAN'S SYNDROME

    BalasHapus
  59. I Gusti Agung Ngurah Yoga Wiradharma
    11700201
    Coping over time: the parents of children with autism

    BalasHapus
  60. I Gusti Ngurah Putu Sugiartha Putra
    11700225
    judul : Apathy Is Not Depression
    in Huntington’s Disease

    BalasHapus
  61. Made Aryana Purwa Dwitama
    1700205
    topik :alzheimer
    judul :Genome-wide Analysis of Genetic Loci
    Associated With Alzheimer Disease

    BalasHapus
  62. I GEDE SANJAYA
    11700445
    KARYOTYPE VERSUS MICROARRY TESTING FOR GENETIC ABNORMALITIES AFTER STILLBIRTH

    BalasHapus
  63. i wayan gede ferry hendrawan
    11700001
    judul jurnal : PERIODONTAL ASPECTS IN CHILDREN AND ADOLESCENTS
    WITH DOWN SYNDROME

    BalasHapus
  64. Kadek Juliana Surya Putra
    11700403
    XY females: revisiting the diagnosis

    BalasHapus
  65. ISNA ARLINA/11700143/65/XY female
    JUDUL : XY female with 5-α reductase deficiency

    BalasHapus
  66. -Parental-age effects in Down syndrome
    -On the paternal origin of trisomy 21 Down
    syndrome

    ferdita rc 11700269

    BalasHapus