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
|
kapan kita disuruh ya?
BalasHapuskelas A baru di suru besog
BalasHapuscuma di kasikan skarang
Nama zindy mm
BalasHapusNpm 11700151
Jurnal 1 : prader willi syndrome
2 : periodontal disease in a patient with prader will syndrome cases report
nama : AULIY SULVIA
BalasHapusNPM : 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
NI LUH AYU SUMBAWATI 11700305
BalasHapusANGLMAN SYNDROME (AS,MIM 105830)
KETUT DIAN TINI (11700303)
OSTEOPOROSIS I KLINERFILTER SYDROME
A A SINTA WIDIANI (11700301)
BalasHapusKLINEFLTER SYNDROME AND OTHER SEX CHROMOSOMAL ANEUPLOIDES
BARZAT AUDI
BalasHapus11700251
" Genetic diagnosis of Duchenne and Becker
muscular dystrophy using next-generation
sequencing technology: comprehensive
mutational search in a single platform "
NURHAFIDA BINTI DARKUTNI
BalasHapus11700007
Care of Girls and Women with Turner Syndrome: A
Guideline of the Turner Syndrome Study Group.
maaf, yang di atas tidak dipakai, jd yang ini
Hapus"Issues in prenatal counseling and
diagnosis in Turner Syndrome"
I PUTU PRAYOGA TENAYA
BalasHapus11700031
ANGELMAN SYNDROME
EPILEPSY IN PATIENS WITH ANGELMAN SINDROME
I Gusti Agung Ngurah Yoga Wiradharma
BalasHapus11700201
Theoretical aspects of autism: Causes—A review
I. B. Jumpung Gd. Sunu A. Wedhana
BalasHapus11700017
"Turner Syndrome" by Ravinder K Gupta, Ritu Gupta, Sunil Dutt Sharma.
NI MADE RATNA ANGGRENI
BalasHapus11700193
47,XYY
Ring chromosome 13 syndrome characterized by
high resolution array based comparative genomic
hybridization in patient with 47, XYY syndrome: a
case report
RALAT INI YANG SAYA
HapusDiagnosis and mortality in 47,XYY persons: a
registry study
I Made Dwi Hendrayana Surya
BalasHapus11700073
2011"A
topik:FRAGILE X SYNDROME
JUDUL:Genetic Counseling for Fragile X Syndrome: Updated
Recommendations of the National Society of
Genetic Counselors
Genetik Konseling untuk Sindrom Fragile X: Diperbaharui
HapusRekomendasi dari Masyarakat Nasional
Konselor genetik
ANIS S
BalasHapus11700179
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
- HAIFA MARAYA
BalasHapus- 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"
Nama : I Made Maha Candra Budaya
BalasHapusNPM : 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
2. Diagnosis and mortality in 47,XYY persons: a
BalasHapusregistry study
I putu sejiwan
BalasHapus11700175
Pengaruh Konseling Genetik pada Tingkat Depresi terhadap
Penentuan Gender Ambigus Genitalia
jurnal internasional lalu di translitkan wan..
Hapusfebriliana
BalasHapus11700229
Huntington’s disease: a clinical review
by. Raymund AC Roos
nama : novia handaini
BalasHapusnpm : 11700005
judul:Hyperthyroidism in Down Syndrome
YENNI P.S.
BalasHapus11700267
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"
Nama : I Made Eryana
BalasHapusNPM : 11700145
No Urut : 66
Topik : CONGENITAL ADRENAL HYPERPLASIA (CAH)
Judul : Growth and Reproductive Outcomes in Congenital Adrenal Hyperplasia
Nama : Ayu Diah Permata Sari
BalasHapusNPM : 11700283
No. Urut : 133
Judul : Growth Hormone plus Childhood Low-Dose
Estrogen in Turner’s Syndrome
nama : laily adha
BalasHapusnpm : 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
2. Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia
BalasHapusnama : i made eryana
Hapusini punyaku yang kedua, yg diatas ga jadi..
nama : faizal fahmi
BalasHapusnpm : 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
nama : raras olivia cindy
BalasHapusnpm: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
NAMA : NYOMAN TITAMARITA TRISNAWAN
BalasHapusNPM : 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
NAMA :IPUTU ARIS GOVINDHA P
BalasHapusNPM :11700063
NO URUT :27
TOPIK :CRI DU CHAT SYNDROME
JUDUL :Cri Du Chat Syndrome-A rare genetic disorder: An overview
NAMA :IPUTU ARIS GOVINDHA P
HapusNPM :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
ini gak jadi sama kayak meik sari bos
Hapusyg dipake yang judulnya lebih puanjang yg duluan udah ad yang sama soalnya : )
HapusNAMA :YUNI ARIANI
BalasHapusNPM : 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
Nama : ANDANI PUTRI BUDI ARTI
BalasHapusNPM : 11700223
No. Urut : 105
Topik : Marfan Syndrome
Judul : Abdominal visceral findings in patients with Marfan
syndrome
RALAT !!!
HapusAngiotensin II Blockade and Aortic-Root Dilation in Marfan’s Syndrome
Nama : Zindy m.m
BalasHapusNpm : 11700151
No urut : 69
Topik : congenital adrenal hyperplasia
Judul : growth in congenital adrenal hyperplasia
Indah Ayu Kartiksari
BalasHapus11700371
beta-thalasemia minor during pregnancy
I Gd Andrika Indrayoga
11700369
Renal functions in pediatric patients with beta-thalasssemia
Nama : Marco Filano
BalasHapusNPM : 11700097
1. α-Thalassemia, Mental Retardation, and Myelodysplastic Syndrome
2. Alpha thalassemia major—new mutations,intrauterine management, and outcomes
nama : mishbahul wathoniyah
BalasHapusnpm : 11700109
no urut : 50
kelomok dg topik :thalasemia beta no urut :46-50
judul :EFFECT OF DIFFERENT MODALITIES OF CHELATION IN
BETA THALASSEMIA
Nama : Dipta byp
BalasHapusnpm : 11700219
Marfan syndrome: clinical diagnosis and
management
TOPIK : MARFAN SYNDROME
Hapusnama: tutut rachmawati
BalasHapusnpm: 11700083
tema: hemopholiamophilia
jurnal MG:prophylaxis versus treatment to prevent joint dise in boys with severe he
nama:gati setiadianti
BalasHapusnmp: 11700121
judul :coginetal and adptiv deficites in young children with duchenne muscular dysthropy
nama : meik sari
BalasHapusnmp : 11700327
judul : cri du chat syndrome a rare genetic disorder an overview
ULFATUS SANGADAH SEPTIYANI
BalasHapus11700171
Judul:
Prenatal diagnosis of achondrogenesis type I
NAMA: NURI Amini
BalasHapusNPM: 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
Nama : I Putu Krisna Murti
BalasHapusnpm : 11700345
kelas 2011 C
Topik : Hemophilia
Judul Jurnal : "Anti-Inhibitor Coagulant Complex
Prophylaxis in Hemophilia with Inhibitors"
nama : luh putu prisillia k devi
BalasHapusnpm : 11700401
kelas : 2011 C
topik : XY Female
judul : genetic analysis of a family with 46 XY female associated with infertility
Yang diatas ga jadi
BalasHapusNama : 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
Nama : Linda Purwasih
BalasHapusNPM: 11700391
No.urut:184
Topik: XX male
judul :XX males SRY negatives: a confirmed cause of infertility
Nama : Luqman Yuwono
BalasHapusNpm : 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
nama : jhelma amiko
BalasHapusnpm : 11700351
no.urut : 166
topik : hemofilia
judul : alternative strategies for gen therapy of hemophilia
Nama : Ketut Dian Tini
BalasHapusNpm : 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!!!!! #
Nama : I Putu Gede Windiana Putra
BalasHapusNpm : 11700115
Kelas : 2011 A
Topik : duchnee muscular dystrophy
Judul : duchnee muscular dystrophy:Focus on pharmaceuticaland nutritional interventions
ralat...
Hapusjudul : Poor Facial Affect Recognition Among Boys with Duchenne
Muscular Dystrophy
judul 2 : Impact of Bisphosphonates on Survival for Patients With Duchenne Muscular Dystrophy
Hapusjudul 3 : Mutation and haplotype analysis for Duchenne muscular
Hapusdystrophy by single cell multiple displacement amplification
Ralat !!
BalasHapusNama : Sri Wahyuni
Npm : 11700085
kelas : 2011 A
topik : Hemophilia
judul : International recommendations on the diagnosis and treatment of patients with acquired hemophilia A
Nama : Heydar Patria Wardana
BalasHapusNpm : 1700329
Kelas: 2011 A
Topik: cri du chat syndrome
judul: Educational Priorities for Children with Cri-Du-Chat Syndrome
Nama:I Made Dwi Laksemana Putra
BalasHapusNPM :11700197
Kelas :2011a
Topik :autism
Judul :Early Autism Detection: Are We Ready for Routine
Screening?
RALATT
BalasHapusNI LUH AYU SUMBAWATI
11700305
2011C
TOPIK: ANGELMAN SYDROME
JUDUL JURNAL : ABNORMAL MYELINATION IN ANGELMAN SYNDROME
jangan di samain ya
nama : i gusti ngurah putu sugiartha putra
BalasHapusnpm : 11700225
judul : Striatal degeneration impairs language learning:
evidence from Huntington’s disease
NAMA : A.A OKA SHINDU PHALGUNA
BalasHapusNPM : 11700185
TOPIK : 47,XYY
JUDUL : Male infertility related to an aberrant karyotype, 47,XYY: four case reports
ralat : Embryo with XYY syndrome presenting with clubfoot: a case report
HapusNama : Tina Maulina
BalasHapusNpm : 11700441
No.urut: 207
Topik : PRENATAL DIAGNOSIS
Judul. : Optimising prenatal diagnosis of down's syndrome
RALAT !!!!!!!
Hapusganti judul : Genetic considerations in the prenatal diagnosis
of overgrowth syndromes
RALAT !!!!
Hapusganti judul (lagi): Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA
Elsya Natalia Pariury
BalasHapusNpm : 11700079
No.urut : 35
Topik : fragile x syndrome
Judul jurnal : a nonsense mutation in FMR1 causing fragile x syndrome
NAMA: KADEK ADI SUHARSANA
BalasHapusNPM:11700147
TOPIK: CAH
JUDUL: APPROACH TO THE ADULT WITH CONGENITAL ADRENAL HYPERPLASIA DUE TO 21- HYDROXYLASE DEFICIENCY
NAMA: JEVELIN HOESADA
BalasHapusNPM: 08700300
TOPIK: MARFAN SYNDROME
JUDUL: AlTERATIONS OF THE THORACIC SPINE IN MARFAN'S SYNDROME
I Gusti Agung Ngurah Yoga Wiradharma
BalasHapus11700201
Coping over time: the parents of children with autism
I Gusti Ngurah Putu Sugiartha Putra
BalasHapus11700225
judul : Apathy Is Not Depression
in Huntington’s Disease
Made Aryana Purwa Dwitama
BalasHapus1700205
topik :alzheimer
judul :Genome-wide Analysis of Genetic Loci
Associated With Alzheimer Disease
I GEDE SANJAYA
BalasHapus11700445
KARYOTYPE VERSUS MICROARRY TESTING FOR GENETIC ABNORMALITIES AFTER STILLBIRTH
i wayan gede ferry hendrawan
BalasHapus11700001
judul jurnal : PERIODONTAL ASPECTS IN CHILDREN AND ADOLESCENTS
WITH DOWN SYNDROME
Kadek Juliana Surya Putra
BalasHapus11700403
XY females: revisiting the diagnosis
ISNA ARLINA/11700143/65/XY female
BalasHapusJUDUL : XY female with 5-α reductase deficiency
-Parental-age effects in Down syndrome
BalasHapus-On the paternal origin of trisomy 21 Down
syndrome
ferdita rc 11700269